Canonical Allele Identifier: CA025712
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38168
dbSNP Id: rs11571747

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371035A>C , CM000675.2:g.32371035A>C GRCh38
NC_000013.10:g.32945172A>C , CM000675.1:g.32945172A>C GRCh37
NC_000013.9:g.31843172A>C NCBI36
NG_012772.3:g.60556A>C , LRG_293:g.60556A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.8567A>C MANE Select ENSP00000369497.3:p.Glu2856Ala
ENST00000544455.6:c.8567A>C ENSP00000439902.1:p.Glu2856Ala
ENST00000614259.2:n.8575A>C ENSP00000506251.1:p.=
ENST00000665585.1:n.1132A>C
ENST00000680887.1:c.8567A>C ENSP00000505508.1:p.Glu2856Ala
ENST00000380152.7:c.8567A>C ENSP00000369497.3:p.Glu2856Ala
ENST00000528762.1:n.65A>C ENSP00000433168.1:p.Glu22Ala
ENST00000544455.5:c.8567A>C ENSP00000439902.1:p.Glu2856Ala
NM_000059.3:c.8567A>C , LRG_293t1:c.8567A>C NP_000050.2:p.Glu2856Ala
XM_011535203.1:c.8567A>C XP_011533505.1:p.Glu2856Ala
XM_011535204.1:c.8471A>C XP_011533506.1:p.Glu2824Ala
XM_011535205.1:c.8567A>C XP_011533507.1:p.Glu2856Ala
NM_000059.4:c.8567A>C MANE Select NP_000050.3:p.Glu2856Ala