Canonical Allele Identifier: CA2082783537
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319205C= , CM000675.2:g.32319205C= GRCh38
NC_000013.10:g.32893342C= , CM000675.1:g.32893342C= GRCh37
NC_000013.9:g.31791342C= NCBI36
NG_012772.3:g.8726C= , LRG_293:g.8726C=
NG_017006.2:g.1159G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.196C= ENSP00000434898.2:p.Gln66=
ENST00000528762.2:c.196C= ENSP00000433168.2:p.Gln66=
ENST00000530893.7:c.-174C= ENSP00000499438.2:n.-174C=
ENST00000665585.2:c.196C= ENSP00000499570.2:p.Gln66=
ENST00000666593.2:c.196C= ENSP00000499256.2:p.Gln66=
ENST00000700202.2:c.196C= ENSP00000514856.2:p.Gln66=
ENST00000700200.1:n.191+2678C=
ENST00000700201.1:c.196C= ENSP00000514855.1:p.Gln66=
ENST00000380152.8:c.196C= MANE Select ENSP00000369497.3:p.Gln66=
ENST00000544455.6:c.196C= ENSP00000439902.1:p.Gln66=
ENST00000614259.2:c.196C= ENSP00000506251.1:p.Gln66=
ENST00000680887.1:c.196C= ENSP00000505508.1:p.Gln66=
ENST00000380152.7:c.196C= ENSP00000369497.3:p.Gln66=
ENST00000530893.6:n.394C=
ENST00000544455.5:c.196C= ENSP00000439902.1:p.Gln66=
ENST00000614259.1:n.196C=
NM_000059.3:c.196C= , LRG_293t1:c.196C= NP_000050.2:p.Gln66=
XM_011535203.1:c.196C= XP_011533505.1:p.Gln66=
XM_011535204.1:c.196C= XP_011533506.1:p.Gln66=
XM_011535205.1:c.196C= XP_011533507.1:p.Gln66=
NM_000059.4:c.196C= MANE Select NP_000050.3:p.Gln66=