Canonical Allele Identifier: CA024713

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38077
• ClinVar RCV Id: RCV000009923 ; RCV000031659 ; RCV000045112 ; RCV000131031 ; RCV000174440 ; RCV000475925 ; RCV000735595 ; RCV001001799 ; RCV002496486
• dbSNP Id: rs28897743
• gnomAD v2: 13-32921033-G-A
• gnomAD v4: 13-32346896-G-A
• MyVariant Identifiers: chr13:g.32921033G>A (hg19) ; chr13:g.32346896G>A (hg38)
• PubMed: PMID:9536098 ; PMID:12065746 ; PMID:15026808 ; PMID:15146557 ; PMID:16115142 ; PMID:16792514 ; PMID:16931905 ; PMID:17453335 ; PMID:17924331 ; PMID:18451181 ; PMID:18489799 ; PMID:20215541 ; PMID:21719596 ; PMID:22460208 ; PMID:22486713 ; PMID:22505045 ; PMID:24312913 ; PMID:24916970 ; PMID:25395318 ; PMID:25556971 ; PMID:25782689 ; PMID:26295337 ; PMID:26968956
• CIViC: CA024713

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32346896G>A , CM000675.2:g.32346896G>A	GRCh38
NC_000013.10:g.32921033G>A , CM000675.1:g.32921033G>A	GRCh37
NC_000013.9:g.31819033G>A	NCBI36
NG_012772.3:g.36417G>A , LRG_293:g.36417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7007G>A	ENSP00000434898.2:p.Arg2336His
ENST00000528762.2:c.7007G>A	ENSP00000433168.2:p.Arg2336His
ENST00000530893.7:c.6638G>A	ENSP00000499438.2:p.Arg2213His
ENST00000665585.2:c.7007G>A	ENSP00000499570.2:p.Arg2336His
ENST00000666593.2:c.7007G>A	ENSP00000499256.2:p.Arg2336His
ENST00000700202.2:c.7007G>A	ENSP00000514856.2:p.Arg2336His
ENST00000380152.8:c.7007G>A MANE Select	ENSP00000369497.3:p.Arg2336His
ENST00000544455.6:c.7007G>A	ENSP00000439902.1:p.Arg2336His
ENST00000614259.2:c.7007G>A	ENSP00000506251.1:p.Arg2336His
ENST00000680887.1:c.7007G>A	ENSP00000505508.1:p.Arg2336His
ENST00000380152.7:c.7007G>A	ENSP00000369497.3:p.Arg2336His
ENST00000544455.5:c.7007G>A	ENSP00000439902.1:p.Arg2336His
ENST00000614259.1:n.7007G>A
NM_000059.3:c.7007G>A , LRG_293t1:c.7007G>A	NP_000050.2:p.Arg2336His
XM_011535203.1:c.7007G>A	XP_011533505.1:p.Arg2336His
XM_011535204.1:c.6911G>A	XP_011533506.1:p.Arg2304His
XM_011535205.1:c.7007G>A	XP_011533507.1:p.Arg2336His
NM_000059.4:c.7007G>A MANE Select	NP_000050.3:p.Arg2336His