Canonical Allele Identifier: CA026311
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52906
dbSNP Id: rs80359246

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398352C>A , CM000675.2:g.32398352C>A GRCh38
NC_000013.10:g.32972489C>A , CM000675.1:g.32972489C>A GRCh37
NC_000013.9:g.31870489C>A NCBI36
NG_012772.3:g.87873C>A , LRG_293:g.87873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*362C>A ENSP00000434898.2:n.*362C>A
ENST00000528762.2:c.*1206C>A ENSP00000433168.2:n.*1206C>A
ENST00000530893.7:c.9470C>A ENSP00000499438.2:p.Pro3157His
ENST00000665585.2:c.*1401C>A ENSP00000499570.2:n.*1401C>A
ENST00000700202.2:c.9788C>A ENSP00000514856.2:p.Pro3263His
ENST00000700202.1:c.2255C>A ENSP00000514856.1:p.Pro752His
ENST00000700203.1:n.1966C>A
ENST00000380152.8:c.9839C>A MANE Select ENSP00000369497.3:p.Pro3280His
ENST00000544455.6:c.9839C>A ENSP00000439902.1:p.Pro3280His
ENST00000614259.2:c.9847C>A ENSP00000506251.1:n.9847C>A
ENST00000680887.1:c.9839C>A ENSP00000505508.1:p.Pro3280His
ENST00000380152.7:c.9839C>A ENSP00000369497.3:p.Pro3280His
ENST00000533776.1:n.427C>A
ENST00000544455.5:c.9839C>A ENSP00000439902.1:p.Pro3280His
NM_000059.3:c.9839C>A , LRG_293t1:c.9839C>A NP_000050.2:p.Pro3280His
XM_011535203.1:c.9839C>A XP_011533505.1:p.Pro3280His
XM_011535204.1:c.9743C>A XP_011533506.1:p.Pro3248His
NM_000059.4:c.9839C>A MANE Select NP_000050.3:p.Pro3280His