Canonical Allele Identifier: CA10586081

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 252850
• ClinVar RCV Id: RCV000238981
• dbSNP Id: rs879255466
• MyVariant Identifiers: chr13:g.32936759A>T (hg19) ; chr13:g.32362622A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362622A>T , CM000675.2:g.32362622A>T	GRCh38
NC_000013.10:g.32936759A>T , CM000675.1:g.32936759A>T	GRCh37
NC_000013.9:g.31834759A>T	NCBI36
NG_012772.3:g.52143A>T , LRG_293:g.52143A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7905A>T	ENSP00000434898.2:p.Glu2635Asp
ENST00000528762.2:c.7905A>T	ENSP00000433168.2:p.Glu2635Asp
ENST00000530893.7:c.7536A>T	ENSP00000499438.2:p.Glu2512Asp
ENST00000665585.2:c.7905A>T	ENSP00000499570.2:p.Glu2635Asp
ENST00000666593.2:c.7905A>T	ENSP00000499256.2:p.Glu2635Asp
ENST00000700202.2:c.7905A>T	ENSP00000514856.2:p.Glu2635Asp
ENST00000700202.1:c.372A>T	ENSP00000514856.1:p.Glu124Asp
ENST00000380152.8:c.7905A>T MANE Select	ENSP00000369497.3:p.Glu2635Asp
ENST00000544455.6:c.7905A>T	ENSP00000439902.1:p.Glu2635Asp
ENST00000614259.2:c.7913A>T	ENSP00000506251.1:p.Asn2638Ile
ENST00000665585.1:c.470A>T
ENST00000680887.1:c.7905A>T	ENSP00000505508.1:p.Glu2635Asp
ENST00000380152.7:c.7905A>T	ENSP00000369497.3:p.Glu2635Asp
ENST00000544455.5:c.7905A>T	ENSP00000439902.1:p.Glu2635Asp
ENST00000614259.1:n.7913A>T
NM_000059.3:c.7905A>T , LRG_293t1:c.7905A>T	NP_000050.2:p.Glu2635Asp
XM_011535203.1:c.7905A>T	XP_011533505.1:p.Glu2635Asp
XM_011535204.1:c.7809A>T	XP_011533506.1:p.Glu2603Asp
XM_011535205.1:c.7905A>T	XP_011533507.1:p.Glu2635Asp
NM_000059.4:c.7905A>T MANE Select	NP_000050.3:p.Glu2635Asp