Canonical Allele Identifier: CA2082835517
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398358C= , CM000675.2:g.32398358C= GRCh38
NC_000013.10:g.32972495C= , CM000675.1:g.32972495C= GRCh37
NC_000013.9:g.31870495C= NCBI36
NG_012772.3:g.87879C= , LRG_293:g.87879C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*368C= ENSP00000434898.2:n.*368C=
ENST00000528762.2:c.*1212C= ENSP00000433168.2:n.*1212C=
ENST00000530893.7:c.9476C= ENSP00000499438.2:p.Pro3159=
ENST00000665585.2:c.*1407C= ENSP00000499570.2:n.*1407C=
ENST00000700202.2:c.9794C= ENSP00000514856.2:p.Pro3265=
ENST00000700202.1:c.2261C= ENSP00000514856.1:p.Pro754=
ENST00000700203.1:n.1972C=
ENST00000380152.8:c.9845C= MANE Select ENSP00000369497.3:p.Pro3282=
ENST00000544455.6:c.9845C= ENSP00000439902.1:p.Pro3282=
ENST00000614259.2:c.9853C= ENSP00000506251.1:n.9853C=
ENST00000680887.1:c.9845C= ENSP00000505508.1:p.Pro3282=
ENST00000380152.7:c.9845C= ENSP00000369497.3:p.Pro3282=
ENST00000533776.1:n.433C=
ENST00000544455.5:c.9845C= ENSP00000439902.1:p.Pro3282=
NM_000059.3:c.9845C= , LRG_293t1:c.9845C= NP_000050.2:p.Pro3282=
XM_011535203.1:c.9845C= XP_011533505.1:p.Pro3282=
XM_011535204.1:c.9749C= XP_011533506.1:p.Pro3250=
NM_000059.4:c.9845C= MANE Select NP_000050.3:p.Pro3282=