Canonical Allele Identifier: CA387760831

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137652186
• MyVariant Identifiers: chr13:g.32968856A>T (hg19) ; chr13:g.32394719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394719A>T , CM000675.2:g.32394719A>T	GRCh38
NC_000013.10:g.32968856A>T , CM000675.1:g.32968856A>T	GRCh37
NC_000013.9:g.31866856A>T	NCBI36
NG_012772.3:g.84240A>T , LRG_293:g.84240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9287A>T	ENSP00000434898.2:p.Glu3096Val
ENST00000528762.2:c.*654A>T	ENSP00000433168.2:n.*654A>T
ENST00000530893.7:c.8918A>T	ENSP00000499438.2:p.Glu2973Val
ENST00000665585.2:c.*849A>T	ENSP00000499570.2:n.*849A>T
ENST00000666593.2:c.*132A>T	ENSP00000499256.2:n.*132A>T
ENST00000700202.2:c.9236A>T	ENSP00000514856.2:p.Glu3079Val
ENST00000700202.1:c.1703A>T	ENSP00000514856.1:p.Glu568Val
ENST00000700203.1:n.1414A>T
ENST00000380152.8:c.9287A>T MANE Select	ENSP00000369497.3:p.Glu3096Val
ENST00000544455.6:c.9287A>T	ENSP00000439902.1:p.Glu3096Val
ENST00000614259.2:c.9295A>T	ENSP00000506251.1:n.9295A>T
ENST00000665585.1:c.2165A>T
ENST00000666593.1:c.309A>T	ENSP00000499256.1:n.309A>T
ENST00000680887.1:c.9287A>T	ENSP00000505508.1:p.Glu3096Val
ENST00000380152.7:c.9287A>T	ENSP00000369497.3:p.Glu3096Val
ENST00000470094.1:c.244A>T
ENST00000544455.5:c.9287A>T	ENSP00000439902.1:p.Glu3096Val
NM_000059.3:c.9287A>T , LRG_293t1:c.9287A>T	NP_000050.2:p.Glu3096Val
XM_011535203.1:c.9287A>T	XP_011533505.1:p.Glu3096Val
XM_011535204.1:c.9191A>T	XP_011533506.1:p.Glu3064Val
NM_000059.4:c.9287A>T MANE Select	NP_000050.3:p.Glu3096Val