Canonical Allele Identifier: CA387757792

Gene: BRCA2

Linked Data

• dbSNP Id: rs28897757
• MyVariant Identifiers: chr13:g.32954155A>C (hg19) ; chr13:g.32380018A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380018A>C , CM000675.2:g.32380018A>C	GRCh38
NC_000013.10:g.32954155A>C , CM000675.1:g.32954155A>C	GRCh37
NC_000013.9:g.31852155A>C	NCBI36
NG_012772.3:g.69539A>C , LRG_293:g.69539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9129A>C	ENSP00000434898.2:p.Glu3043Asp
ENST00000528762.2:c.*496A>C	ENSP00000433168.2:n.*496A>C
ENST00000530893.7:c.8760A>C	ENSP00000499438.2:p.Glu2920Asp
ENST00000665585.2:c.*691A>C	ENSP00000499570.2:n.*691A>C
ENST00000666593.2:c.9129A>C	ENSP00000499256.2:p.Glu3043Asp
ENST00000700202.2:c.9078A>C	ENSP00000514856.2:p.Glu3026Asp
ENST00000700202.1:c.1545A>C	ENSP00000514856.1:p.Glu515Asp
ENST00000700203.1:n.1256A>C
ENST00000380152.8:c.9129A>C MANE Select	ENSP00000369497.3:p.Glu3043Asp
ENST00000544455.6:c.9129A>C	ENSP00000439902.1:p.Glu3043Asp
ENST00000614259.2:c.9137A>C	ENSP00000506251.1:n.9137A>C
ENST00000665585.1:c.2007A>C
ENST00000666593.1:c.12A>C	ENSP00000499256.1:p.Glu4Asp
ENST00000680887.1:c.9129A>C	ENSP00000505508.1:p.Glu3043Asp
ENST00000380152.7:c.9129A>C	ENSP00000369497.3:p.Glu3043Asp
ENST00000470094.1:c.86A>C
ENST00000544455.5:c.9129A>C	ENSP00000439902.1:p.Glu3043Asp
NM_000059.3:c.9129A>C , LRG_293t1:c.9129A>C	NP_000050.2:p.Glu3043Asp
XM_011535203.1:c.9129A>C	XP_011533505.1:p.Glu3043Asp
XM_011535204.1:c.9033A>C	XP_011533506.1:p.Glu3011Asp
NM_000059.4:c.9129A>C MANE Select	NP_000050.3:p.Glu3043Asp