ClinVar

NM_206862.4(TACC2):c.1309C>T (p.Pro437Ser)

Gene:

TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 122083809 (on Assembly GRCh38)
• Chr10: 123843324 (on Assembly GRCh37)

Preferred name:

NM_206862.4(TACC2):c.1309C>T (p.Pro437Ser)

HGVS:

• NC_000010.11:g.122083809C>T
• NG_029948.2:g.99636C>T
• NG_029948.3:g.99648C>T
• NM_001291876.2:c.1309C>T
• NM_001291877.2:c.1309C>T
• NM_206861.3:c.146+33259C>T
• NM_206862.4:c.1309C>TMANE SELECT
• NP_001278805.2:p.Pro437Ser
• NP_001278806.2:p.Pro437Ser
• NP_996744.4:p.Pro437Ser
• NC_000010.10:g.123843324C>T
• NM_206862.2:c.1309C>T

This HGVS expression did not pass validation

Protein change:

P437S

Molecular consequence:

• NM_206861.3:c.146+33259C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291876.2:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291877.2:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206862.4:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]