Canonical Allele Identifier: CA10589526

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267117
• ClinVar RCV Id: RCV000257156 ; RCV000657664 ; RCV002446507 ; RCV003644976
• dbSNP Id: rs886040801
• MyVariant Identifiers: chr13:g.32953630T>A (hg19) ; chr13:g.32379493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379493T>A , CM000675.2:g.32379493T>A	GRCh38
NC_000013.10:g.32953630T>A , CM000675.1:g.32953630T>A	GRCh37
NC_000013.9:g.31851630T>A	NCBI36
NG_012772.3:g.69014T>A , LRG_293:g.69014T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8931T>A	ENSP00000434898.2:p.Tyr2977Ter
ENST00000528762.2:c.*298T>A	ENSP00000433168.2:n.*298T>A
ENST00000530893.7:c.8562T>A	ENSP00000499438.2:p.Tyr2854Ter
ENST00000665585.2:c.*493T>A	ENSP00000499570.2:n.*493T>A
ENST00000666593.2:c.8931T>A	ENSP00000499256.2:p.Tyr2977Ter
ENST00000700202.2:c.8931T>A	ENSP00000514856.2:p.Tyr2977Ter
ENST00000700202.1:c.1398T>A	ENSP00000514856.1:p.Tyr466Ter
ENST00000700203.1:n.1058T>A
ENST00000380152.8:c.8931T>A MANE Select	ENSP00000369497.3:p.Tyr2977Ter
ENST00000544455.6:c.8931T>A	ENSP00000439902.1:p.Tyr2977Ter
ENST00000614259.2:c.8939T>A	ENSP00000506251.1:n.8939T>A
ENST00000665585.1:c.1809T>A
ENST00000680887.1:c.8931T>A	ENSP00000505508.1:p.Tyr2977Ter
ENST00000380152.7:c.8931T>A	ENSP00000369497.3:p.Tyr2977Ter
ENST00000528762.1:c.493T>A	ENSP00000433168.1:n.493T>A
ENST00000544455.5:c.8931T>A	ENSP00000439902.1:p.Tyr2977Ter
NM_000059.3:c.8931T>A , LRG_293t1:c.8931T>A	NP_000050.2:p.Tyr2977Ter
XM_011535203.1:c.8931T>A	XP_011533505.1:p.Tyr2977Ter
XM_011535204.1:c.8835T>A	XP_011533506.1:p.Tyr2945Ter
XM_011535205.1:c.8755-257T>A	XP_011533507.1:n.8755-257T>A
NM_000059.4:c.8931T>A MANE Select	NP_000050.3:p.Tyr2977Ter