Canonical Allele Identifier: CA021678
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185896
dbSNP Id: rs786202543

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339555G>A , CM000675.2:g.32339555G>A GRCh38
NC_000013.10:g.32913692G>A , CM000675.1:g.32913692G>A GRCh37
NC_000013.9:g.31811692G>A NCBI36
NG_012772.3:g.29076G>A , LRG_293:g.29076G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.5200G>A MANE Select ENSP00000369497.3:p.Glu1734Lys
ENST00000544455.6:c.5200G>A ENSP00000439902.1:p.Glu1734Lys
ENST00000614259.2:n.5200G>A ENSP00000506251.1:p.Glu1734Lys
ENST00000680887.1:c.5200G>A ENSP00000505508.1:p.Glu1734Lys
ENST00000380152.7:c.5200G>A ENSP00000369497.3:p.Glu1734Lys
ENST00000544455.5:c.5200G>A ENSP00000439902.1:p.Glu1734Lys
ENST00000614259.1:n.5200G>A
NM_000059.3:c.5200G>A , LRG_293t1:c.5200G>A NP_000050.2:p.Glu1734Lys
XM_011535203.1:c.5200G>A XP_011533505.1:p.Glu1734Lys
XM_011535204.1:c.5200G>A XP_011533506.1:p.Glu1734Lys
XM_011535205.1:c.5200G>A XP_011533507.1:p.Glu1734Lys
NM_000059.4:c.5200G>A MANE Select NP_000050.3:p.Glu1734Lys