Canonical Allele Identifier: CA2082828485
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376699_32376700delinsCG , CM000675.2:g.32376699_32376700delinsCG GRCh38
NC_000013.10:g.32950836_32950837delinsCG , CM000675.1:g.32950836_32950837delinsCG GRCh37
NC_000013.9:g.31848836_31848837delinsCG NCBI36
NG_012772.3:g.66220_66221delinsCG , LRG_293:g.66220_66221delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8662_8663delinsCG ENSP00000434898.2:p.Arg2888=
ENST00000528762.2:c.*29_*30delinsCG ENSP00000433168.2:n.*29_*30delinsCG
ENST00000530893.7:c.8293_8294delinsCG ENSP00000499438.2:p.Arg2765=
ENST00000665585.2:c.*224_*225delinsCG ENSP00000499570.2:n.*224_*225delinsCG
ENST00000666593.2:c.8662_8663delinsCG ENSP00000499256.2:p.Arg2888=
ENST00000700202.2:c.8662_8663delinsCG ENSP00000514856.2:p.Arg2888=
ENST00000700202.1:c.1129_1130delinsCG ENSP00000514856.1:p.Arg377=
ENST00000700203.1:n.789_790delinsCG
ENST00000380152.8:c.8662_8663delinsCG MANE Select ENSP00000369497.3:p.Arg2888=
ENST00000544455.6:c.8662_8663delinsCG ENSP00000439902.1:p.Arg2888=
ENST00000614259.2:c.8670_8671delinsCG ENSP00000506251.1:n.8670_8671delinsCG
ENST00000665585.1:c.1540_1541delinsCG
ENST00000680887.1:c.8662_8663delinsCG ENSP00000505508.1:p.Arg2888=
ENST00000380152.7:c.8662_8663delinsCG ENSP00000369497.3:p.Arg2888=
ENST00000528762.1:c.224_225delinsCG ENSP00000433168.1:n.224_225delinsCG
ENST00000544455.5:c.8662_8663delinsCG ENSP00000439902.1:p.Arg2888=
NM_000059.3:c.8662_8663delinsCG , LRG_293t1:c.8662_8663delinsCG NP_000050.2:p.Arg2888=
XM_011535203.1:c.8662_8663delinsCG XP_011533505.1:p.Arg2888=
XM_011535204.1:c.8566_8567delinsCG XP_011533506.1:p.Arg2856=
XM_011535205.1:c.8662_8663delinsCG XP_011533507.1:p.Arg2888=
NM_000059.4:c.8662_8663delinsCG MANE Select NP_000050.3:p.Arg2888=