Canonical Allele Identifier: CA025798

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 185201
• ClinVar RCV Id: RCV000164571 ; RCV000238725 ; RCV000257980 ; RCV000768610 ; RCV002509265
• dbSNP Id: rs786201996
• gnomAD v2: 13-32950913-C-G
• gnomAD v3: 13-32376776-C-G
• gnomAD v4: 13-32376776-C-G
• MyVariant Identifiers: chr13:g.32950913C>G (hg19) ; chr13:g.32376776C>G (hg38)
• PubMed: PMID:15955690 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376776C>G , CM000675.2:g.32376776C>G	GRCh38
NC_000013.10:g.32950913C>G , CM000675.1:g.32950913C>G	GRCh37
NC_000013.9:g.31848913C>G	NCBI36
NG_012772.3:g.66297C>G , LRG_293:g.66297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8739C>G	ENSP00000434898.2:p.Asp2913Glu
ENST00000528762.2:c.*106C>G	ENSP00000433168.2:n.*106C>G
ENST00000530893.7:c.8370C>G	ENSP00000499438.2:p.Asp2790Glu
ENST00000665585.2:c.*301C>G	ENSP00000499570.2:n.*301C>G
ENST00000666593.2:c.8739C>G	ENSP00000499256.2:p.Asp2913Glu
ENST00000700202.2:c.8739C>G	ENSP00000514856.2:p.Asp2913Glu
ENST00000700202.1:c.1206C>G	ENSP00000514856.1:p.Asp402Glu
ENST00000700203.1:n.866C>G
ENST00000380152.8:c.8739C>G MANE Select	ENSP00000369497.3:p.Asp2913Glu
ENST00000544455.6:c.8739C>G	ENSP00000439902.1:p.Asp2913Glu
ENST00000614259.2:c.8747C>G	ENSP00000506251.1:n.8747C>G
ENST00000665585.1:c.1617C>G
ENST00000680887.1:c.8739C>G	ENSP00000505508.1:p.Asp2913Glu
ENST00000380152.7:c.8739C>G	ENSP00000369497.3:p.Asp2913Glu
ENST00000528762.1:c.301C>G	ENSP00000433168.1:n.301C>G
ENST00000544455.5:c.8739C>G	ENSP00000439902.1:p.Asp2913Glu
NM_000059.3:c.8739C>G , LRG_293t1:c.8739C>G	NP_000050.2:p.Asp2913Glu
XM_011535203.1:c.8739C>G	XP_011533505.1:p.Asp2913Glu
XM_011535204.1:c.8643C>G	XP_011533506.1:p.Asp2881Glu
XM_011535205.1:c.8739C>G	XP_011533507.1:p.Asp2913Glu
NM_000059.4:c.8739C>G MANE Select	NP_000050.3:p.Asp2913Glu