Canonical Allele Identifier: CA2740097653
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3010201
ClinVar RCV Id: RCV003867376

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337278_32337279delinsGA , CM000675.2:g.32337278_32337279delinsGA GRCh38
NC_000013.10:g.32911415_32911416delinsGA , CM000675.1:g.32911415_32911416delinsGA GRCh37
NC_000013.9:g.31809415_31809416delinsGA NCBI36
NG_012772.3:g.26799_26800delinsGA , LRG_293:g.26799_26800delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.2923_2924delinsGA ENSP00000434898.2:p.Ile975Asp
ENST00000528762.2:c.2923_2924delinsGA ENSP00000433168.2:p.Ile975Asp
ENST00000530893.7:c.2554_2555delinsGA ENSP00000499438.2:p.Ile852Asp
ENST00000665585.2:c.2923_2924delinsGA ENSP00000499570.2:p.Ile975Asp
ENST00000666593.2:c.2923_2924delinsGA ENSP00000499256.2:p.Ile975Asp
ENST00000700202.2:c.2923_2924delinsGA ENSP00000514856.2:p.Ile975Asp
ENST00000380152.8:c.2923_2924delinsGA MANE Select ENSP00000369497.3:p.Ile975Asp
ENST00000544455.6:c.2923_2924delinsGA ENSP00000439902.1:p.Ile975Asp
ENST00000614259.2:c.2923_2924delinsGA ENSP00000506251.1:p.Ile975Asp
ENST00000680887.1:c.2923_2924delinsGA ENSP00000505508.1:p.Ile975Asp
ENST00000380152.7:c.2923_2924delinsGA ENSP00000369497.3:p.Ile975Asp
ENST00000544455.5:c.2923_2924delinsGA ENSP00000439902.1:p.Ile975Asp
ENST00000614259.1:n.2923_2924delinsGA
NM_000059.3:c.2923_2924delinsGA , LRG_293t1:c.2923_2924delinsGA NP_000050.2:p.Ile975Asp
XM_011535203.1:c.2923_2924delinsGA XP_011533505.1:p.Ile975Asp
XM_011535204.1:c.2923_2924delinsGA XP_011533506.1:p.Ile975Asp
XM_011535205.1:c.2923_2924delinsGA XP_011533507.1:p.Ile975Asp
NM_000059.4:c.2923_2924delinsGA MANE Select NP_000050.3:p.Ile975Asp