Canonical Allele Identifier: CA10602562

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267716
• ClinVar RCV Id: RCV000258263 ; RCV000726023 ; RCV002518792
• dbSNP Id: rs886040950
• MyVariant Identifiers: chr13:g.32954143G>A (hg19) ; chr13:g.32380006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380006G>A , CM000675.2:g.32380006G>A	GRCh38
NC_000013.10:g.32954143G>A , CM000675.1:g.32954143G>A	GRCh37
NC_000013.9:g.31852143G>A	NCBI36
NG_012772.3:g.69527G>A , LRG_293:g.69527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9118-1G>A	ENSP00000434898.2:n.9118-1G>A
ENST00000528762.2:c.*485-1G>A	ENSP00000433168.2:n.*485-1G>A
ENST00000530893.7:c.8749-1G>A	ENSP00000499438.2:n.8749-1G>A
ENST00000665585.2:c.*680-1G>A	ENSP00000499570.2:n.*680-1G>A
ENST00000666593.2:c.9118-1G>A	ENSP00000499256.2:n.9118-1G>A
ENST00000700202.2:c.9067-1G>A	ENSP00000514856.2:n.9067-1G>A
ENST00000700202.1:c.1534-1G>A	ENSP00000514856.1:n.1534-1G>A
ENST00000700203.1:n.1245-1G>A
ENST00000380152.8:c.9118-1G>A MANE Select	ENSP00000369497.3:n.9118-1G>A
ENST00000544455.6:c.9118-1G>A	ENSP00000439902.1:n.9118-1G>A
ENST00000614259.2:c.9126-1G>A	ENSP00000506251.1:n.9126-1G>A
ENST00000665585.1:c.1996-1G>A
ENST00000680887.1:c.9118-1G>A	ENSP00000505508.1:n.9118-1G>A
ENST00000380152.7:c.9118-1G>A	ENSP00000369497.3:n.9118-1G>A
ENST00000470094.1:c.75-1G>A
ENST00000544455.5:c.9118-1G>A	ENSP00000439902.1:n.9118-1G>A
NM_000059.3:c.9118-1G>A , LRG_293t1:c.9118-1G>A	NP_000050.2:n.9118-1G>A
XM_011535203.1:c.9118-1G>A	XP_011533505.1:n.9118-1G>A
XM_011535204.1:c.9022-1G>A	XP_011533506.1:n.9022-1G>A
NM_000059.4:c.9118-1G>A MANE Select	NP_000050.3:n.9118-1G>A