Canonical Allele Identifier: CA025812
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38183
dbSNP Id: rs81002812

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379316G>A , CM000675.2:g.32379316G>A GRCh38
NC_000013.10:g.32953453G>A , CM000675.1:g.32953453G>A GRCh37
NC_000013.9:g.31851453G>A NCBI36
NG_012772.3:g.68837G>A , LRG_293:g.68837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8755-1G>A ENSP00000434898.2:n.8755-1G>A
ENST00000528762.2:c.*122-1G>A ENSP00000433168.2:n.*122-1G>A
ENST00000530893.7:c.8386-1G>A ENSP00000499438.2:n.8386-1G>A
ENST00000665585.2:c.*317-1G>A ENSP00000499570.2:n.*317-1G>A
ENST00000666593.2:c.8755-1G>A ENSP00000499256.2:n.8755-1G>A
ENST00000700202.2:c.8755-1G>A ENSP00000514856.2:n.8755-1G>A
ENST00000700202.1:c.1222-1G>A ENSP00000514856.1:n.1222-1G>A
ENST00000700203.1:n.882-1G>A
ENST00000380152.8:c.8755-1G>A MANE Select ENSP00000369497.3:n.8755-1G>A
ENST00000544455.6:c.8755-1G>A ENSP00000439902.1:n.8755-1G>A
ENST00000614259.2:c.8763-1G>A ENSP00000506251.1:n.8763-1G>A
ENST00000665585.1:c.1633-1G>A
ENST00000680887.1:c.8755-1G>A ENSP00000505508.1:n.8755-1G>A
ENST00000380152.7:c.8755-1G>A ENSP00000369497.3:n.8755-1G>A
ENST00000528762.1:c.317-1G>A ENSP00000433168.1:n.317-1G>A
ENST00000544455.5:c.8755-1G>A ENSP00000439902.1:n.8755-1G>A
NM_000059.3:c.8755-1G>A , LRG_293t1:c.8755-1G>A NP_000050.2:n.8755-1G>A
XM_011535203.1:c.8755-1G>A XP_011533505.1:n.8755-1G>A
XM_011535204.1:c.8659-1G>A XP_011533506.1:n.8659-1G>A
XM_011535205.1:c.8755-434G>A XP_011533507.1:n.8755-434G>A
NM_000059.4:c.8755-1G>A MANE Select NP_000050.3:n.8755-1G>A