Canonical Allele Identifier: CA387760836

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137652196
• MyVariant Identifiers: chr13:g.32968857A>T (hg19) ; chr13:g.32394720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394720A>T , CM000675.2:g.32394720A>T	GRCh38
NC_000013.10:g.32968857A>T , CM000675.1:g.32968857A>T	GRCh37
NC_000013.9:g.31866857A>T	NCBI36
NG_012772.3:g.84241A>T , LRG_293:g.84241A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9288A>T	ENSP00000434898.2:p.Glu3096Asp
ENST00000528762.2:c.*655A>T	ENSP00000433168.2:n.*655A>T
ENST00000530893.7:c.8919A>T	ENSP00000499438.2:p.Glu2973Asp
ENST00000665585.2:c.*850A>T	ENSP00000499570.2:n.*850A>T
ENST00000666593.2:c.*133A>T	ENSP00000499256.2:n.*133A>T
ENST00000700202.2:c.9237A>T	ENSP00000514856.2:p.Glu3079Asp
ENST00000700202.1:c.1704A>T	ENSP00000514856.1:p.Glu568Asp
ENST00000700203.1:n.1415A>T
ENST00000380152.8:c.9288A>T MANE Select	ENSP00000369497.3:p.Glu3096Asp
ENST00000544455.6:c.9288A>T	ENSP00000439902.1:p.Glu3096Asp
ENST00000614259.2:c.9296A>T	ENSP00000506251.1:n.9296A>T
ENST00000665585.1:c.2166A>T
ENST00000666593.1:c.310A>T	ENSP00000499256.1:n.310A>T
ENST00000680887.1:c.9288A>T	ENSP00000505508.1:p.Glu3096Asp
ENST00000380152.7:c.9288A>T	ENSP00000369497.3:p.Glu3096Asp
ENST00000470094.1:c.245A>T
ENST00000544455.5:c.9288A>T	ENSP00000439902.1:p.Glu3096Asp
NM_000059.3:c.9288A>T , LRG_293t1:c.9288A>T	NP_000050.2:p.Glu3096Asp
XM_011535203.1:c.9288A>T	XP_011533505.1:p.Glu3096Asp
XM_011535204.1:c.9192A>T	XP_011533506.1:p.Glu3064Asp
NM_000059.4:c.9288A>T MANE Select	NP_000050.3:p.Glu3096Asp