Canonical Allele Identifier: CA2082831360
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362616_32362617delinsTA , CM000675.2:g.32362616_32362617delinsTA GRCh38
NC_000013.10:g.32936753_32936754delinsTA , CM000675.1:g.32936753_32936754delinsTA GRCh37
NC_000013.9:g.31834753_31834754delinsTA NCBI36
NG_012772.3:g.52137_52138delinsTA , LRG_293:g.52137_52138delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7899_7900delinsTA ENSP00000434898.2:p.Ala2633=
ENST00000528762.2:c.7899_7900delinsTA ENSP00000433168.2:p.Ala2633=
ENST00000530893.7:c.7530_7531delinsTA ENSP00000499438.2:p.Ala2510=
ENST00000665585.2:c.7899_7900delinsTA ENSP00000499570.2:p.Ala2633=
ENST00000666593.2:c.7899_7900delinsTA ENSP00000499256.2:p.Ala2633=
ENST00000700202.2:c.7899_7900delinsTA ENSP00000514856.2:p.Ala2633=
ENST00000700202.1:c.366_367delinsTA ENSP00000514856.1:p.Ala122=
ENST00000380152.8:c.7899_7900delinsTA MANE Select ENSP00000369497.3:p.Ala2633=
ENST00000544455.6:c.7899_7900delinsTA ENSP00000439902.1:p.Ala2633=
ENST00000614259.2:c.7907_7908delinsTA ENSP00000506251.1:p.Leu2636=
ENST00000665585.1:c.464_465delinsTA
ENST00000680887.1:c.7899_7900delinsTA ENSP00000505508.1:p.Ala2633=
ENST00000380152.7:c.7899_7900delinsTA ENSP00000369497.3:p.Ala2633=
ENST00000544455.5:c.7899_7900delinsTA ENSP00000439902.1:p.Ala2633=
ENST00000614259.1:n.7907_7908delinsTA
NM_000059.3:c.7899_7900delinsTA , LRG_293t1:c.7899_7900delinsTA NP_000050.2:p.Ala2633=
XM_011535203.1:c.7899_7900delinsTA XP_011533505.1:p.Ala2633=
XM_011535204.1:c.7803_7804delinsTA XP_011533506.1:p.Ala2601=
XM_011535205.1:c.7899_7900delinsTA XP_011533507.1:p.Ala2633=
NM_000059.4:c.7899_7900delinsTA MANE Select NP_000050.3:p.Ala2633=