Canonical Allele Identifier: CA2727874253
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566260692

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398093A>C , CM000675.2:g.32398093A>C GRCh38
NC_000013.10:g.32972230A>C , CM000675.1:g.32972230A>C GRCh37
NC_000013.9:g.31870230A>C NCBI36
NG_012772.3:g.87614A>C , LRG_293:g.87614A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*172-69A>C ENSP00000434898.2:n.*172-69A>C
ENST00000528762.2:c.*1016-69A>C ENSP00000433168.2:n.*1016-69A>C
ENST00000530893.7:c.9280-69A>C ENSP00000499438.2:n.9280-69A>C
ENST00000665585.2:c.*1211-69A>C ENSP00000499570.2:n.*1211-69A>C
ENST00000700202.2:c.9598-69A>C ENSP00000514856.2:n.9598-69A>C
ENST00000700202.1:c.2065-69A>C ENSP00000514856.1:n.2065-69A>C
ENST00000700203.1:n.1776-69A>C
ENST00000380152.8:c.9649-69A>C MANE Select ENSP00000369497.3:n.9649-69A>C
ENST00000544455.6:c.9649-69A>C ENSP00000439902.1:n.9649-69A>C
ENST00000614259.2:c.9657-69A>C ENSP00000506251.1:n.9657-69A>C
ENST00000665585.1:c.2527-69A>C
ENST00000680887.1:c.9649-69A>C ENSP00000505508.1:n.9649-69A>C
ENST00000380152.7:c.9649-69A>C ENSP00000369497.3:n.9649-69A>C
ENST00000470094.1:c.732-69A>C
ENST00000533776.1:n.237-69A>C
ENST00000544455.5:c.9649-69A>C ENSP00000439902.1:n.9649-69A>C
NM_000059.3:c.9649-69A>C , LRG_293t1:c.9649-69A>C NP_000050.2:n.9649-69A>C
XM_011535203.1:c.9649-69A>C XP_011533505.1:n.9649-69A>C
XM_011535204.1:c.9553-69A>C XP_011533506.1:n.9553-69A>C
NM_000059.4:c.9649-69A>C MANE Select NP_000050.3:n.9649-69A>C