Canonical Allele Identifier: CA2082821891
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394695C= , CM000675.2:g.32394695C= GRCh38
NC_000013.10:g.32968832C= , CM000675.1:g.32968832C= GRCh37
NC_000013.9:g.31866832C= NCBI36
NG_012772.3:g.84216C= , LRG_293:g.84216C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9263C= ENSP00000434898.2:p.Ala3088=
ENST00000528762.2:c.*630C= ENSP00000433168.2:n.*630C=
ENST00000530893.7:c.8894C= ENSP00000499438.2:p.Ala2965=
ENST00000665585.2:c.*825C= ENSP00000499570.2:n.*825C=
ENST00000666593.2:c.*108C= ENSP00000499256.2:n.*108C=
ENST00000700202.2:c.9212C= ENSP00000514856.2:p.Ala3071=
ENST00000700202.1:c.1679C= ENSP00000514856.1:p.Ala560=
ENST00000700203.1:n.1390C=
ENST00000380152.8:c.9263C= MANE Select ENSP00000369497.3:p.Ala3088=
ENST00000544455.6:c.9263C= ENSP00000439902.1:p.Ala3088=
ENST00000614259.2:c.9271C= ENSP00000506251.1:n.9271C=
ENST00000665585.1:c.2141C=
ENST00000666593.1:c.285C= ENSP00000499256.1:n.285C=
ENST00000680887.1:c.9263C= ENSP00000505508.1:p.Ala3088=
ENST00000380152.7:c.9263C= ENSP00000369497.3:p.Ala3088=
ENST00000470094.1:c.220C=
ENST00000544455.5:c.9263C= ENSP00000439902.1:p.Ala3088=
NM_000059.3:c.9263C= , LRG_293t1:c.9263C= NP_000050.2:p.Ala3088=
XM_011535203.1:c.9263C= XP_011533505.1:p.Ala3088=
XM_011535204.1:c.9167C= XP_011533506.1:p.Ala3056=
NM_000059.4:c.9263C= MANE Select NP_000050.3:p.Ala3088=