Canonical Allele Identifier: CA2082818581
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337943_32337944delinsGA , CM000675.2:g.32337943_32337944delinsGA GRCh38
NC_000013.10:g.32912080_32912081delinsGA , CM000675.1:g.32912080_32912081delinsGA GRCh37
NC_000013.9:g.31810080_31810081delinsGA NCBI36
NG_012772.3:g.27464_27465delinsGA , LRG_293:g.27464_27465delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3588_3589delinsGA ENSP00000434898.2:p.Leu1196=
ENST00000528762.2:c.3588_3589delinsGA ENSP00000433168.2:p.Leu1196=
ENST00000530893.7:c.3219_3220delinsGA ENSP00000499438.2:p.Leu1073=
ENST00000665585.2:c.3588_3589delinsGA ENSP00000499570.2:p.Leu1196=
ENST00000666593.2:c.3588_3589delinsGA ENSP00000499256.2:p.Leu1196=
ENST00000700202.2:c.3588_3589delinsGA ENSP00000514856.2:p.Leu1196=
ENST00000380152.8:c.3588_3589delinsGA MANE Select ENSP00000369497.3:p.Leu1196=
ENST00000544455.6:c.3588_3589delinsGA ENSP00000439902.1:p.Leu1196=
ENST00000614259.2:c.3588_3589delinsGA ENSP00000506251.1:p.Leu1196=
ENST00000680887.1:c.3588_3589delinsGA ENSP00000505508.1:p.Leu1196=
ENST00000380152.7:c.3588_3589delinsGA ENSP00000369497.3:p.Leu1196=
ENST00000544455.5:c.3588_3589delinsGA ENSP00000439902.1:p.Leu1196=
ENST00000614259.1:n.3588_3589delinsGA
NM_000059.3:c.3588_3589delinsGA , LRG_293t1:c.3588_3589delinsGA NP_000050.2:p.Leu1196=
XM_011535203.1:c.3588_3589delinsGA XP_011533505.1:p.Leu1196=
XM_011535204.1:c.3588_3589delinsGA XP_011533506.1:p.Leu1196=
XM_011535205.1:c.3588_3589delinsGA XP_011533507.1:p.Leu1196=
NM_000059.4:c.3588_3589delinsGA MANE Select NP_000050.3:p.Leu1196=