Canonical Allele Identifier: CA2082828710
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376717C= , CM000675.2:g.32376717C= GRCh38
NC_000013.10:g.32950854C= , CM000675.1:g.32950854C= GRCh37
NC_000013.9:g.31848854C= NCBI36
NG_012772.3:g.66238C= , LRG_293:g.66238C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8680C= ENSP00000434898.2:p.Gln2894=
ENST00000528762.2:c.*47C= ENSP00000433168.2:n.*47C=
ENST00000530893.7:c.8311C= ENSP00000499438.2:p.Gln2771=
ENST00000665585.2:c.*242C= ENSP00000499570.2:n.*242C=
ENST00000666593.2:c.8680C= ENSP00000499256.2:p.Gln2894=
ENST00000700202.2:c.8680C= ENSP00000514856.2:p.Gln2894=
ENST00000700202.1:c.1147C= ENSP00000514856.1:p.Gln383=
ENST00000700203.1:n.807C=
ENST00000380152.8:c.8680C= MANE Select ENSP00000369497.3:p.Gln2894=
ENST00000544455.6:c.8680C= ENSP00000439902.1:p.Gln2894=
ENST00000614259.2:c.8688C= ENSP00000506251.1:n.8688C=
ENST00000665585.1:c.1558C=
ENST00000680887.1:c.8680C= ENSP00000505508.1:p.Gln2894=
ENST00000380152.7:c.8680C= ENSP00000369497.3:p.Gln2894=
ENST00000528762.1:c.242C= ENSP00000433168.1:n.242C=
ENST00000544455.5:c.8680C= ENSP00000439902.1:p.Gln2894=
NM_000059.3:c.8680C= , LRG_293t1:c.8680C= NP_000050.2:p.Gln2894=
XM_011535203.1:c.8680C= XP_011533505.1:p.Gln2894=
XM_011535204.1:c.8584C= XP_011533506.1:p.Gln2862=
XM_011535205.1:c.8680C= XP_011533507.1:p.Gln2894=
NM_000059.4:c.8680C= MANE Select NP_000050.3:p.Gln2894=