Canonical Allele Identifier: CA3261216022
Community Standard Title: NM_000059.4(BRCA2):c.9455_9456delinsGA (p.Glu3152Gly)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394887_32394888delinsGA , CM000675.2:g.32394887_32394888delinsGA GRCh38
NC_000013.10:g.32969024_32969025delinsGA , CM000675.1:g.32969024_32969025delinsGA GRCh37
NC_000013.9:g.31867024_31867025delinsGA NCBI36
NG_012772.3:g.84408_84409delinsGA , LRG_293:g.84408_84409delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9455_9456delinsGA MANE Select NP_000050.3:p.Glu3152Gly
ENST00000380152.8:c.9455_9456delinsGA MANE Select ENSP00000369497.3:p.Glu3152Gly
NM_000059.3:c.9455_9456delinsGA , LRG_293t1:c.9455_9456delinsGA NP_000050.2:p.Glu3152Gly
ENST00000380152.7:c.9455_9456delinsGA ENSP00000369497.3:p.Glu3152Gly
ENST00000470094.1:c.412_413delinsGA
ENST00000470094.2:c.9455_9456delinsGA ENSP00000434898.2:p.Glu3152Gly
ENST00000528762.2:c.*822_*823delinsGA ENSP00000433168.2:n.*822_*823delinsGA
ENST00000530893.7:c.9086_9087delinsGA ENSP00000499438.2:p.Glu3029Gly
ENST00000544455.5:c.9455_9456delinsGA ENSP00000439902.1:p.Glu3152Gly
ENST00000544455.6:c.9455_9456delinsGA ENSP00000439902.1:p.Glu3152Gly
ENST00000614259.2:c.9463_9464delinsGA ENSP00000506251.1:n.9463_9464delinsGA
ENST00000665585.1:c.2333_2334delinsGA
ENST00000665585.2:c.*1017_*1018delinsGA ENSP00000499570.2:n.*1017_*1018delinsGA
ENST00000666593.1:c.477_478delinsGA ENSP00000499256.1:n.477_478delinsGA
ENST00000666593.2:c.*300_*301delinsGA ENSP00000499256.2:n.*300_*301delinsGA
ENST00000680887.1:c.9455_9456delinsGA ENSP00000505508.1:p.Glu3152Gly
ENST00000700202.1:c.1871_1872delinsGA ENSP00000514856.1:p.Glu624Gly
ENST00000700202.2:c.9404_9405delinsGA ENSP00000514856.2:p.Glu3135Gly
ENST00000700203.1:n.1582_1583delinsGA
XM_011535203.1:c.9455_9456delinsGA XP_011533505.1:p.Glu3152Gly
XM_011535204.1:c.9359_9360delinsGA XP_011533506.1:p.Glu3120Gly