Canonical Allele Identifier: CA387760713

Gene: BRCA2

Linked Data

• dbSNP Id: rs574271678
• MyVariant Identifiers: chr13:g.32968826G>T (hg19) ; chr13:g.32394689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394689G>T , CM000675.2:g.32394689G>T	GRCh38
NC_000013.10:g.32968826G>T , CM000675.1:g.32968826G>T	GRCh37
NC_000013.9:g.31866826G>T	NCBI36
NG_012772.3:g.84210G>T , LRG_293:g.84210G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9257G>T	ENSP00000434898.2:p.Gly3086Val
ENST00000528762.2:c.*624G>T	ENSP00000433168.2:n.*624G>T
ENST00000530893.7:c.8888G>T	ENSP00000499438.2:p.Gly2963Val
ENST00000665585.2:c.*819G>T	ENSP00000499570.2:n.*819G>T
ENST00000666593.2:c.*102G>T	ENSP00000499256.2:n.*102G>T
ENST00000700202.2:c.9206G>T	ENSP00000514856.2:p.Gly3069Val
ENST00000700202.1:c.1673G>T	ENSP00000514856.1:p.Gly558Val
ENST00000700203.1:n.1384G>T
ENST00000380152.8:c.9257G>T MANE Select	ENSP00000369497.3:p.Gly3086Val
ENST00000544455.6:c.9257G>T	ENSP00000439902.1:p.Gly3086Val
ENST00000614259.2:c.9265G>T	ENSP00000506251.1:n.9265G>T
ENST00000665585.1:c.2135G>T
ENST00000666593.1:c.279G>T	ENSP00000499256.1:n.279G>T
ENST00000680887.1:c.9257G>T	ENSP00000505508.1:p.Gly3086Val
ENST00000380152.7:c.9257G>T	ENSP00000369497.3:p.Gly3086Val
ENST00000470094.1:c.214G>T
ENST00000544455.5:c.9257G>T	ENSP00000439902.1:p.Gly3086Val
NM_000059.3:c.9257G>T , LRG_293t1:c.9257G>T	NP_000050.2:p.Gly3086Val
XM_011535203.1:c.9257G>T	XP_011533505.1:p.Gly3086Val
XM_011535204.1:c.9161G>T	XP_011533506.1:p.Gly3054Val
NM_000059.4:c.9257G>T MANE Select	NP_000050.3:p.Gly3086Val