Canonical Allele Identifier: CA2082815810
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356646_32356648delinsCAG , CM000675.2:g.32356646_32356648delinsCAG GRCh38
NC_000013.10:g.32930783_32930785delinsCAG , CM000675.1:g.32930783_32930785delinsCAG GRCh37
NC_000013.9:g.31828783_31828785delinsCAG NCBI36
NG_012772.3:g.46167_46169delinsCAG , LRG_293:g.46167_46169delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7617+37_7617+39delinsCAG ENSP00000434898.2:n.7617+37_7617+39delinsCAG
ENST00000528762.2:c.7617+37_7617+39delinsCAG ENSP00000433168.2:n.7617+37_7617+39delinsCAG
ENST00000530893.7:c.7248+37_7248+39delinsCAG ENSP00000499438.2:n.7248+37_7248+39delinsCAG
ENST00000665585.2:c.7617+37_7617+39delinsCAG ENSP00000499570.2:n.7617+37_7617+39delinsCAG
ENST00000666593.2:c.7617+37_7617+39delinsCAG ENSP00000499256.2:n.7617+37_7617+39delinsCAG
ENST00000700202.2:c.7617+37_7617+39delinsCAG ENSP00000514856.2:n.7617+37_7617+39delinsCAG
ENST00000700202.1:c.84+37_84+39delinsCAG ENSP00000514856.1:n.84+37_84+39delinsCAG
ENST00000380152.8:c.7617+37_7617+39delinsCAG MANE Select ENSP00000369497.3:n.7617+37_7617+39delinsCAG
ENST00000544455.6:c.7617+37_7617+39delinsCAG ENSP00000439902.1:n.7617+37_7617+39delinsCAG
ENST00000614259.2:c.7617+37_7617+39delinsCAG ENSP00000506251.1:n.7617+37_7617+39delinsCAG
ENST00000665585.1:c.182+37_182+39delinsCAG
ENST00000680887.1:c.7617+37_7617+39delinsCAG ENSP00000505508.1:n.7617+37_7617+39delinsCAG
ENST00000380152.7:c.7617+37_7617+39delinsCAG ENSP00000369497.3:n.7617+37_7617+39delinsCAG
ENST00000544455.5:c.7617+37_7617+39delinsCAG ENSP00000439902.1:n.7617+37_7617+39delinsCAG
ENST00000614259.1:n.7617+37_7617+39delinsCAG
NM_000059.3:c.7617+37_7617+39delinsCAG , LRG_293t1:c.7617+37_7617+39delinsCAG NP_000050.2:n.7617+37_7617+39delinsCAG
XM_011535203.1:c.7617+37_7617+39delinsCAG XP_011533505.1:n.7617+37_7617+39delinsCAG
XM_011535204.1:c.7521+37_7521+39delinsCAG XP_011533506.1:n.7521+37_7521+39delinsCAG
XM_011535205.1:c.7617+37_7617+39delinsCAG XP_011533507.1:n.7617+37_7617+39delinsCAG
NM_000059.4:c.7617+37_7617+39delinsCAG MANE Select NP_000050.3:n.7617+37_7617+39delinsCAG