Canonical Allele Identifier: CA10579839

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396967T>C , CM000675.2:g.32396967T>C	GRCh38
NC_000013.10:g.32971104T>C , CM000675.1:g.32971104T>C	GRCh37
NC_000013.9:g.31869104T>C	NCBI36
NG_012772.3:g.86488T>C , LRG_293:g.86488T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9571T>C MANE Select	NP_000050.3:p.Trp3191Arg
ENST00000380152.8:c.9571T>C MANE Select	ENSP00000369497.3:p.Trp3191Arg
NM_000059.3:c.9571T>C , LRG_293t1:c.9571T>C	NP_000050.2:p.Trp3191Arg
ENST00000380152.7:c.9571T>C	ENSP00000369497.3:p.Trp3191Arg
ENST00000470094.1:c.654T>C
ENST00000470094.2:c.*94T>C	ENSP00000434898.2:n.*94T>C
ENST00000528762.2:c.*938T>C	ENSP00000433168.2:n.*938T>C
ENST00000530893.7:c.9202T>C	ENSP00000499438.2:p.Trp3068Arg
ENST00000533776.1:n.159T>C
ENST00000544455.5:c.9571T>C	ENSP00000439902.1:p.Trp3191Arg
ENST00000544455.6:c.9571T>C	ENSP00000439902.1:p.Trp3191Arg
ENST00000614259.2:c.9579T>C	ENSP00000506251.1:n.9579T>C
ENST00000665585.1:c.2449T>C
ENST00000665585.2:c.*1133T>C	ENSP00000499570.2:n.*1133T>C
ENST00000680887.1:c.9571T>C	ENSP00000505508.1:p.Trp3191Arg
ENST00000700202.1:c.1987T>C	ENSP00000514856.1:p.Trp663Arg
ENST00000700202.2:c.9520T>C	ENSP00000514856.2:p.Trp3174Arg
ENST00000700203.1:n.1698T>C
XM_011535203.1:c.9571T>C	XP_011533505.1:p.Trp3191Arg
XM_011535204.1:c.9475T>C	XP_011533506.1:p.Trp3159Arg