Canonical Allele Identifier: CA2082828618
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376712_32376713delinsGA , CM000675.2:g.32376712_32376713delinsGA GRCh38
NC_000013.10:g.32950849_32950850delinsGA , CM000675.1:g.32950849_32950850delinsGA GRCh37
NC_000013.9:g.31848849_31848850delinsGA NCBI36
NG_012772.3:g.66233_66234delinsGA , LRG_293:g.66233_66234delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8675_8676delinsGA ENSP00000434898.2:p.Arg2892=
ENST00000528762.2:c.*42_*43delinsGA ENSP00000433168.2:n.*42_*43delinsGA
ENST00000530893.7:c.8306_8307delinsGA ENSP00000499438.2:p.Arg2769=
ENST00000665585.2:c.*237_*238delinsGA ENSP00000499570.2:n.*237_*238delinsGA
ENST00000666593.2:c.8675_8676delinsGA ENSP00000499256.2:p.Arg2892=
ENST00000700202.2:c.8675_8676delinsGA ENSP00000514856.2:p.Arg2892=
ENST00000700202.1:c.1142_1143delinsGA ENSP00000514856.1:p.Arg381=
ENST00000700203.1:n.802_803delinsGA
ENST00000380152.8:c.8675_8676delinsGA MANE Select ENSP00000369497.3:p.Arg2892=
ENST00000544455.6:c.8675_8676delinsGA ENSP00000439902.1:p.Arg2892=
ENST00000614259.2:c.8683_8684delinsGA ENSP00000506251.1:n.8683_8684delinsGA
ENST00000665585.1:c.1553_1554delinsGA
ENST00000680887.1:c.8675_8676delinsGA ENSP00000505508.1:p.Arg2892=
ENST00000380152.7:c.8675_8676delinsGA ENSP00000369497.3:p.Arg2892=
ENST00000528762.1:c.237_238delinsGA ENSP00000433168.1:n.237_238delinsGA
ENST00000544455.5:c.8675_8676delinsGA ENSP00000439902.1:p.Arg2892=
NM_000059.3:c.8675_8676delinsGA , LRG_293t1:c.8675_8676delinsGA NP_000050.2:p.Arg2892=
XM_011535203.1:c.8675_8676delinsGA XP_011533505.1:p.Arg2892=
XM_011535204.1:c.8579_8580delinsGA XP_011533506.1:p.Arg2860=
XM_011535205.1:c.8675_8676delinsGA XP_011533507.1:p.Arg2892=
NM_000059.4:c.8675_8676delinsGA MANE Select NP_000050.3:p.Arg2892=