Canonical Allele Identifier: CA387758417

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1062244
• ClinVar RCV Id: RCV001371936 ; RCV003483827
• dbSNP Id: rs80359186
• MyVariant Identifiers: chr13:g.32954244A>C (hg19) ; chr13:g.32380107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380107A>C , CM000675.2:g.32380107A>C	GRCh38
NC_000013.10:g.32954244A>C , CM000675.1:g.32954244A>C	GRCh37
NC_000013.9:g.31852244A>C	NCBI36
NG_012772.3:g.69628A>C , LRG_293:g.69628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9218A>C	ENSP00000434898.2:p.Asp3073Ala
ENST00000528762.2:c.*585A>C	ENSP00000433168.2:n.*585A>C
ENST00000530893.7:c.8849A>C	ENSP00000499438.2:p.Asp2950Ala
ENST00000665585.2:c.*780A>C	ENSP00000499570.2:n.*780A>C
ENST00000666593.2:c.9218A>C	ENSP00000499256.2:p.Asp3073Ala
ENST00000700202.2:c.9167A>C	ENSP00000514856.2:p.Asp3056Ala
ENST00000700202.1:c.1634A>C	ENSP00000514856.1:p.Asp545Ala
ENST00000700203.1:n.1345A>C
ENST00000380152.8:c.9218A>C MANE Select	ENSP00000369497.3:p.Asp3073Ala
ENST00000544455.6:c.9218A>C	ENSP00000439902.1:p.Asp3073Ala
ENST00000614259.2:c.9226A>C	ENSP00000506251.1:n.9226A>C
ENST00000665585.1:c.2096A>C
ENST00000666593.1:c.101A>C	ENSP00000499256.1:p.Asp34Ala
ENST00000680887.1:c.9218A>C	ENSP00000505508.1:p.Asp3073Ala
ENST00000380152.7:c.9218A>C	ENSP00000369497.3:p.Asp3073Ala
ENST00000470094.1:c.175A>C
ENST00000544455.5:c.9218A>C	ENSP00000439902.1:p.Asp3073Ala
NM_000059.3:c.9218A>C , LRG_293t1:c.9218A>C	NP_000050.2:p.Asp3073Ala
XM_011535203.1:c.9218A>C	XP_011533505.1:p.Asp3073Ala
XM_011535204.1:c.9122A>C	XP_011533506.1:p.Asp3041Ala
NM_000059.4:c.9218A>C MANE Select	NP_000050.3:p.Asp3073Ala