Canonical Allele Identifier: CA483270957

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137651766
• MyVariant Identifiers: chr13:g.32968827A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394690A>T , CM000675.2:g.32394690A>T	GRCh38
NC_000013.10:g.32968827A>T , CM000675.1:g.32968827A>T	GRCh37
NC_000013.9:g.31866827A>T	NCBI36
NG_012772.3:g.84211A>T , LRG_293:g.84211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9258A>T	ENSP00000434898.2:p.Gly3086=
ENST00000528762.2:c.*625A>T	ENSP00000433168.2:n.*625A>T
ENST00000530893.7:c.8889A>T	ENSP00000499438.2:p.Gly2963=
ENST00000665585.2:c.*820A>T	ENSP00000499570.2:n.*820A>T
ENST00000666593.2:c.*103A>T	ENSP00000499256.2:n.*103A>T
ENST00000700202.2:c.9207A>T	ENSP00000514856.2:p.Gly3069=
ENST00000700202.1:c.1674A>T	ENSP00000514856.1:p.Gly558=
ENST00000700203.1:n.1385A>T
ENST00000380152.8:c.9258A>T MANE Select	ENSP00000369497.3:p.Gly3086=
ENST00000544455.6:c.9258A>T	ENSP00000439902.1:p.Gly3086=
ENST00000614259.2:c.9266A>T	ENSP00000506251.1:n.9266A>T
ENST00000665585.1:c.2136A>T
ENST00000666593.1:c.280A>T	ENSP00000499256.1:n.280A>T
ENST00000680887.1:c.9258A>T	ENSP00000505508.1:p.Gly3086=
ENST00000380152.7:c.9258A>T	ENSP00000369497.3:p.Gly3086=
ENST00000470094.1:c.215A>T
ENST00000544455.5:c.9258A>T	ENSP00000439902.1:p.Gly3086=
NM_000059.3:c.9258A>T , LRG_293t1:c.9258A>T	NP_000050.2:p.Gly3086=
XM_011535203.1:c.9258A>T	XP_011533505.1:p.Gly3086=
XM_011535204.1:c.9162A>T	XP_011533506.1:p.Gly3054=
NM_000059.4:c.9258A>T MANE Select	NP_000050.3:p.Gly3086=