Canonical Allele Identifier: CA2082839311
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379905C= , CM000675.2:g.32379905C= GRCh38
NC_000013.10:g.32954042C= , CM000675.1:g.32954042C= GRCh37
NC_000013.9:g.31852042C= NCBI36
NG_012772.3:g.69426C= , LRG_293:g.69426C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9109C= ENSP00000434898.2:p.Gln3037=
ENST00000528762.2:c.*476C= ENSP00000433168.2:n.*476C=
ENST00000530893.7:c.8740C= ENSP00000499438.2:p.Gln2914=
ENST00000665585.2:c.*671C= ENSP00000499570.2:n.*671C=
ENST00000666593.2:c.9109C= ENSP00000499256.2:p.Gln3037=
ENST00000700202.2:c.9058C= ENSP00000514856.2:p.Gln3020=
ENST00000700202.1:c.1525C= ENSP00000514856.1:p.Gln509=
ENST00000700203.1:n.1236C=
ENST00000380152.8:c.9109C= MANE Select ENSP00000369497.3:p.Gln3037=
ENST00000544455.6:c.9109C= ENSP00000439902.1:p.Gln3037=
ENST00000614259.2:c.9117C= ENSP00000506251.1:n.9117C=
ENST00000665585.1:c.1987C=
ENST00000680887.1:c.9109C= ENSP00000505508.1:p.Gln3037=
ENST00000380152.7:c.9109C= ENSP00000369497.3:p.Gln3037=
ENST00000470094.1:c.66C=
ENST00000544455.5:c.9109C= ENSP00000439902.1:p.Gln3037=
NM_000059.3:c.9109C= , LRG_293t1:c.9109C= NP_000050.2:p.Gln3037=
XM_011535203.1:c.9109C= XP_011533505.1:p.Gln3037=
XM_011535204.1:c.9013C= XP_011533506.1:p.Gln3005=
NM_000059.4:c.9109C= MANE Select NP_000050.3:p.Gln3037=