Canonical Allele Identifier: CA2082835575
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379349_32379350delinsGA , CM000675.2:g.32379349_32379350delinsGA GRCh38
NC_000013.10:g.32953486_32953487delinsGA , CM000675.1:g.32953486_32953487delinsGA GRCh37
NC_000013.9:g.31851486_31851487delinsGA NCBI36
NG_012772.3:g.68870_68871delinsGA , LRG_293:g.68870_68871delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8787_8788delinsGA ENSP00000434898.2:p.Leu2929=
ENST00000528762.2:c.*154_*155delinsGA ENSP00000433168.2:n.*154_*155delinsGA
ENST00000530893.7:c.8418_8419delinsGA ENSP00000499438.2:p.Leu2806=
ENST00000665585.2:c.*349_*350delinsGA ENSP00000499570.2:n.*349_*350delinsGA
ENST00000666593.2:c.8787_8788delinsGA ENSP00000499256.2:p.Leu2929=
ENST00000700202.2:c.8787_8788delinsGA ENSP00000514856.2:p.Leu2929=
ENST00000700202.1:c.1254_1255delinsGA ENSP00000514856.1:p.Leu418=
ENST00000700203.1:n.914_915delinsGA
ENST00000380152.8:c.8787_8788delinsGA MANE Select ENSP00000369497.3:p.Leu2929=
ENST00000544455.6:c.8787_8788delinsGA ENSP00000439902.1:p.Leu2929=
ENST00000614259.2:c.8795_8796delinsGA ENSP00000506251.1:n.8795_8796delinsGA
ENST00000665585.1:c.1665_1666delinsGA
ENST00000680887.1:c.8787_8788delinsGA ENSP00000505508.1:p.Leu2929=
ENST00000380152.7:c.8787_8788delinsGA ENSP00000369497.3:p.Leu2929=
ENST00000528762.1:c.349_350delinsGA ENSP00000433168.1:n.349_350delinsGA
ENST00000544455.5:c.8787_8788delinsGA ENSP00000439902.1:p.Leu2929=
NM_000059.3:c.8787_8788delinsGA , LRG_293t1:c.8787_8788delinsGA NP_000050.2:p.Leu2929=
XM_011535203.1:c.8787_8788delinsGA XP_011533505.1:p.Leu2929=
XM_011535204.1:c.8691_8692delinsGA XP_011533506.1:p.Leu2897=
XM_011535205.1:c.8755-401_8755-400delinsGA XP_011533507.1:n.8755-401_8755-400delinsGA
NM_000059.4:c.8787_8788delinsGA MANE Select NP_000050.3:p.Leu2929=