Canonical Allele Identifier: CA2082834547
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398241C= , CM000675.2:g.32398241C= GRCh38
NC_000013.10:g.32972378C= , CM000675.1:g.32972378C= GRCh37
NC_000013.9:g.31870378C= NCBI36
NG_012772.3:g.87762C= , LRG_293:g.87762C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*251C= ENSP00000434898.2:n.*251C=
ENST00000528762.2:c.*1095C= ENSP00000433168.2:n.*1095C=
ENST00000530893.7:c.9359C= ENSP00000499438.2:p.Pro3120=
ENST00000665585.2:c.*1290C= ENSP00000499570.2:n.*1290C=
ENST00000700202.2:c.9677C= ENSP00000514856.2:p.Pro3226=
ENST00000700202.1:c.2144C= ENSP00000514856.1:p.Pro715=
ENST00000700203.1:n.1855C=
ENST00000380152.8:c.9728C= MANE Select ENSP00000369497.3:p.Pro3243=
ENST00000544455.6:c.9728C= ENSP00000439902.1:p.Pro3243=
ENST00000614259.2:c.9736C= ENSP00000506251.1:n.9736C=
ENST00000680887.1:c.9728C= ENSP00000505508.1:p.Pro3243=
ENST00000380152.7:c.9728C= ENSP00000369497.3:p.Pro3243=
ENST00000470094.1:c.811C=
ENST00000533776.1:n.316C=
ENST00000544455.5:c.9728C= ENSP00000439902.1:p.Pro3243=
NM_000059.3:c.9728C= , LRG_293t1:c.9728C= NP_000050.2:p.Pro3243=
XM_011535203.1:c.9728C= XP_011533505.1:p.Pro3243=
XM_011535204.1:c.9632C= XP_011533506.1:p.Pro3211=
NM_000059.4:c.9728C= MANE Select NP_000050.3:p.Pro3243=