Canonical Allele Identifier: CA025319

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38125
• ClinVar RCV Id: RCV000031707 ; RCV000045336 ; RCV000163025 ; RCV000482471 ; RCV001271059 ; RCV001357728 ; RCV002288525 ; RCV002504846 ; RCV003128132
• dbSNP Id: rs80359013
• ExAC: 13:32936732 G / C
• gnomAD v2: 13-32936732-G-C
• gnomAD v4: 13-32362595-G-C
• MyVariant Identifiers: chr13:g.32936732G>C (hg19) ; chr13:g.32362595G>C (hg38)
• PubMed: PMID:11802209 ; PMID:15070707 ; PMID:15645491 ; PMID:16115142 ; PMID:16825431 ; PMID:17100994 ; PMID:17924331 ; PMID:19043619 ; PMID:20104584 ; PMID:21138478 ; PMID:21203900 ; PMID:21520273 ; PMID:21719596 ; PMID:21990134 ; PMID:21990165 ; PMID:22666503 ; PMID:23108138 ; PMID:24301060 ; PMID:24323938 ; PMID:25085752 ; PMID:25146914 ; PMID:25583207 ; PMID:25782689 ; PMID:26014432 ; PMID:26295337 ; PMID:26566862 ; PMID:26733283 ; PMID:27194814 ; PMID:27495310

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362595G>C , CM000675.2:g.32362595G>C	GRCh38
NC_000013.10:g.32936732G>C , CM000675.1:g.32936732G>C	GRCh37
NC_000013.9:g.31834732G>C	NCBI36
NG_012772.3:g.52116G>C , LRG_293:g.52116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7878G>C	ENSP00000434898.2:p.Trp2626Cys
ENST00000528762.2:c.7878G>C	ENSP00000433168.2:p.Trp2626Cys
ENST00000530893.7:c.7509G>C	ENSP00000499438.2:p.Trp2503Cys
ENST00000665585.2:c.7878G>C	ENSP00000499570.2:p.Trp2626Cys
ENST00000666593.2:c.7878G>C	ENSP00000499256.2:p.Trp2626Cys
ENST00000700202.2:c.7878G>C	ENSP00000514856.2:p.Trp2626Cys
ENST00000700202.1:c.345G>C	ENSP00000514856.1:p.Trp115Cys
ENST00000380152.8:c.7878G>C MANE Select	ENSP00000369497.3:p.Trp2626Cys
ENST00000544455.6:c.7878G>C	ENSP00000439902.1:p.Trp2626Cys
ENST00000614259.2:c.7886G>C	ENSP00000506251.1:p.Gly2629Ala
ENST00000665585.1:c.443G>C
ENST00000680887.1:c.7878G>C	ENSP00000505508.1:p.Trp2626Cys
ENST00000380152.7:c.7878G>C	ENSP00000369497.3:p.Trp2626Cys
ENST00000544455.5:c.7878G>C	ENSP00000439902.1:p.Trp2626Cys
ENST00000614259.1:n.7886G>C
NM_000059.3:c.7878G>C , LRG_293t1:c.7878G>C	NP_000050.2:p.Trp2626Cys
XM_011535203.1:c.7878G>C	XP_011533505.1:p.Trp2626Cys
XM_011535204.1:c.7782G>C	XP_011533506.1:p.Trp2594Cys
XM_011535205.1:c.7878G>C	XP_011533507.1:p.Trp2626Cys
NM_000059.4:c.7878G>C MANE Select	NP_000050.3:p.Trp2626Cys