Canonical Allele Identifier: CA2082835851
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398414C= , CM000675.2:g.32398414C= GRCh38
NC_000013.10:g.32972551C= , CM000675.1:g.32972551C= GRCh37
NC_000013.9:g.31870551C= NCBI36
NG_012772.3:g.87935C= , LRG_293:g.87935C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*424C= ENSP00000434898.2:n.*424C=
ENST00000528762.2:c.*1268C= ENSP00000433168.2:n.*1268C=
ENST00000530893.7:c.9532C= ENSP00000499438.2:p.Pro3178=
ENST00000665585.2:c.*1463C= ENSP00000499570.2:n.*1463C=
ENST00000700202.2:c.9850C= ENSP00000514856.2:p.Pro3284=
ENST00000700202.1:c.2317C= ENSP00000514856.1:p.Pro773=
ENST00000700203.1:n.2028C=
ENST00000380152.8:c.9901C= MANE Select ENSP00000369497.3:p.Pro3301=
ENST00000544455.6:c.9901C= ENSP00000439902.1:p.Pro3301=
ENST00000614259.2:c.9909C= ENSP00000506251.1:n.9909C=
ENST00000680887.1:c.9901C= ENSP00000505508.1:p.Pro3301=
ENST00000380152.7:c.9901C= ENSP00000369497.3:p.Pro3301=
ENST00000533776.1:n.489C=
ENST00000544455.5:c.9901C= ENSP00000439902.1:p.Pro3301=
NM_000059.3:c.9901C= , LRG_293t1:c.9901C= NP_000050.2:p.Pro3301=
XM_011535203.1:c.9901C= XP_011533505.1:p.Pro3301=
XM_011535204.1:c.9805C= XP_011533506.1:p.Pro3269=
NM_000059.4:c.9901C= MANE Select NP_000050.3:p.Pro3301=