Canonical Allele Identifier: CA3261215872
Community Standard Title: NM_000059.4(BRCA2):c.7472_7473delinsGA (p.Gln2491Arg)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356464_32356465delinsGA , CM000675.2:g.32356464_32356465delinsGA GRCh38
NC_000013.10:g.32930601_32930602delinsGA , CM000675.1:g.32930601_32930602delinsGA GRCh37
NC_000013.9:g.31828601_31828602delinsGA NCBI36
NG_012772.3:g.45985_45986delinsGA , LRG_293:g.45985_45986delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7472_7473delinsGA MANE Select NP_000050.3:p.Gln2491Arg
ENST00000380152.8:c.7472_7473delinsGA MANE Select ENSP00000369497.3:p.Gln2491Arg
NM_000059.3:c.7472_7473delinsGA , LRG_293t1:c.7472_7473delinsGA NP_000050.2:p.Gln2491Arg
ENST00000380152.7:c.7472_7473delinsGA ENSP00000369497.3:p.Gln2491Arg
ENST00000470094.2:c.7472_7473delinsGA ENSP00000434898.2:p.Gln2491Arg
ENST00000528762.2:c.7472_7473delinsGA ENSP00000433168.2:p.Gln2491Arg
ENST00000530893.7:c.7103_7104delinsGA ENSP00000499438.2:p.Gln2368Arg
ENST00000544455.5:c.7472_7473delinsGA ENSP00000439902.1:p.Gln2491Arg
ENST00000544455.6:c.7472_7473delinsGA ENSP00000439902.1:p.Gln2491Arg
ENST00000614259.1:n.7472_7473delinsGA
ENST00000614259.2:c.7472_7473delinsGA ENSP00000506251.1:p.Gln2491Arg
ENST00000665585.1:c.37_38delinsGA
ENST00000665585.2:c.7472_7473delinsGA ENSP00000499570.2:p.Gln2491Arg
ENST00000666593.2:c.7472_7473delinsGA ENSP00000499256.2:p.Gln2491Arg
ENST00000680887.1:c.7472_7473delinsGA ENSP00000505508.1:p.Gln2491Arg
ENST00000700202.2:c.7472_7473delinsGA ENSP00000514856.2:p.Gln2491Arg
XM_011535203.1:c.7472_7473delinsGA XP_011533505.1:p.Gln2491Arg
XM_011535204.1:c.7376_7377delinsGA XP_011533506.1:p.Gln2459Arg
XM_011535205.1:c.7472_7473delinsGA XP_011533507.1:p.Gln2491Arg