Canonical Allele Identifier: CA483271023

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531199
• ClinVar RCV Id: RCV000637315 ; RCV001019137
• dbSNP Id: rs1192904712
• gnomAD v2: 13-32968872-G-A
• gnomAD v4: 13-32394735-G-A
• MyVariant Identifiers: chr13:g.32968872G>A (hg19) ; chr13:g.32394735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394735G>A , CM000675.2:g.32394735G>A	GRCh38
NC_000013.10:g.32968872G>A , CM000675.1:g.32968872G>A	GRCh37
NC_000013.9:g.31866872G>A	NCBI36
NG_012772.3:g.84256G>A , LRG_293:g.84256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9303G>A	ENSP00000434898.2:p.Leu3101=
ENST00000528762.2:c.*670G>A	ENSP00000433168.2:n.*670G>A
ENST00000530893.7:c.8934G>A	ENSP00000499438.2:p.Leu2978=
ENST00000665585.2:c.*865G>A	ENSP00000499570.2:n.*865G>A
ENST00000666593.2:c.*148G>A	ENSP00000499256.2:n.*148G>A
ENST00000700202.2:c.9252G>A	ENSP00000514856.2:p.Leu3084=
ENST00000700202.1:c.1719G>A	ENSP00000514856.1:p.Leu573=
ENST00000700203.1:n.1430G>A
ENST00000380152.8:c.9303G>A MANE Select	ENSP00000369497.3:p.Leu3101=
ENST00000544455.6:c.9303G>A	ENSP00000439902.1:p.Leu3101=
ENST00000614259.2:c.9311G>A	ENSP00000506251.1:n.9311G>A
ENST00000665585.1:c.2181G>A
ENST00000666593.1:c.325G>A	ENSP00000499256.1:n.325G>A
ENST00000680887.1:c.9303G>A	ENSP00000505508.1:p.Leu3101=
ENST00000380152.7:c.9303G>A	ENSP00000369497.3:p.Leu3101=
ENST00000470094.1:c.260G>A
ENST00000544455.5:c.9303G>A	ENSP00000439902.1:p.Leu3101=
NM_000059.3:c.9303G>A , LRG_293t1:c.9303G>A	NP_000050.2:p.Leu3101=
XM_011535203.1:c.9303G>A	XP_011533505.1:p.Leu3101=
XM_011535204.1:c.9207G>A	XP_011533506.1:p.Leu3069=
NM_000059.4:c.9303G>A MANE Select	NP_000050.3:p.Leu3101=