Canonical Allele Identifier: CA2573320776
Community Standard Title: NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282GlnfsTer11)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109603982_109603983insCTGA , CM000663.2:g.109603982_109603983insCTGA GRCh38
NC_000001.10:g.110146604_110146605insCTGA , CM000663.1:g.110146604_110146605insCTGA GRCh37
NC_000001.9:g.109948127_109948128insCTGA NCBI36
NG_009099.1:g.14101_14102insTCAG

Transcript Alleles

HGVS Amino-acid Change
NM_001377295.2:c.842_843insTCAG (GNAT2) MANE Select NP_001364224.1:p.His282GlnfsTer11
ENST00000679935.1:c.842_843insTCAG (GNAT2) MANE Select ENSP00000505083.1:p.His282GlnfsTer11
NM_001377295.1:c.842_843insTCAG (GNAT2) NP_001364224.1:p.His282GlnfsTer11
NM_001379232.1:c.842_843insTCAG (GNAT2) NP_001366161.1:p.His282GlnfsTer11
NM_005272.3:c.842_843insTCAG (GNAT2) NP_005263.1:p.His282GlnfsTer11
NM_005272.5:c.842_843insTCAG (GNAT2) NP_005263.1:p.His282GlnfsTer11
ENST00000351050.7:c.842_843insTCAG (GNAT2) ENSP00000251337.3:p.His282GlnfsTer11
ENST00000351050.8:c.842_843insTCAG (GNAT2) ENSP00000251337.3:p.His282GlnfsTer11
ENST00000369851.5:c.*11660_*11661insCTGA (GNAI3) ENSP00000358867.4:n.*11660_*11661insCTGA
XM_011541264.1:c.842_843insTCAG (GNAT2) XP_011539566.1:p.His282GlnfsTer11
XM_011541264.2:c.842_843insTCAG (GNAT2) XP_011539566.1:p.His282GlnfsTer11
XM_011541265.1:c.842_843insTCAG (GNAT2) XP_011539567.1:p.His282GlnfsTer11