Canonical Allele Identifier: CA10586091

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 252861
• ClinVar RCV Id: RCV000238955 ; RCV002374408
• dbSNP Id: rs879255474
• MyVariant Identifiers: chr13:g.32972464G>C (hg19) ; chr13:g.32398327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398327G>C , CM000675.2:g.32398327G>C	GRCh38
NC_000013.10:g.32972464G>C , CM000675.1:g.32972464G>C	GRCh37
NC_000013.9:g.31870464G>C	NCBI36
NG_012772.3:g.87848G>C , LRG_293:g.87848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*337G>C	ENSP00000434898.2:n.*337G>C
ENST00000528762.2:c.*1181G>C	ENSP00000433168.2:n.*1181G>C
ENST00000530893.7:c.9445G>C	ENSP00000499438.2:p.Asp3149His
ENST00000665585.2:c.*1376G>C	ENSP00000499570.2:n.*1376G>C
ENST00000700202.2:c.9763G>C	ENSP00000514856.2:p.Asp3255His
ENST00000700202.1:c.2230G>C	ENSP00000514856.1:p.Asp744His
ENST00000700203.1:n.1941G>C
ENST00000380152.8:c.9814G>C MANE Select	ENSP00000369497.3:p.Asp3272His
ENST00000544455.6:c.9814G>C	ENSP00000439902.1:p.Asp3272His
ENST00000614259.2:c.9822G>C	ENSP00000506251.1:n.9822G>C
ENST00000680887.1:c.9814G>C	ENSP00000505508.1:p.Asp3272His
ENST00000380152.7:c.9814G>C	ENSP00000369497.3:p.Asp3272His
ENST00000533776.1:n.402G>C
ENST00000544455.5:c.9814G>C	ENSP00000439902.1:p.Asp3272His
NM_000059.3:c.9814G>C , LRG_293t1:c.9814G>C	NP_000050.2:p.Asp3272His
XM_011535203.1:c.9814G>C	XP_011533505.1:p.Asp3272His
XM_011535204.1:c.9718G>C	XP_011533506.1:p.Asp3240His
NM_000059.4:c.9814G>C MANE Select	NP_000050.3:p.Asp3272His