Canonical Allele Identifier: CA348176332
Community Standard Title: NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
Gene: GLI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120989749C>T , CM000664.2:g.120989749C>T GRCh38
NC_000002.11:g.121747325C>T , CM000664.1:g.121747325C>T GRCh37
NC_000002.10:g.121463795C>T NCBI36
NG_009030.1:g.197459C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374353.1:c.3784C>T MANE Select NP_001361282.1:p.His1262Tyr
ENST00000361492.9:c.3784C>T MANE Select ENSP00000354586.5:p.His1262Tyr
NM_001371271.1:c.3835C>T NP_001358200.1:p.His1279Tyr
NM_001374354.1:c.3409C>T NP_001361283.1:p.His1137Tyr
NM_005270.4:c.3835C>T NP_005261.2:p.His1279Tyr
NM_005270.5:c.3835C>T NP_005261.2:p.His1279Tyr
ENST00000341310.10:c.*2883C>T ENSP00000344473.6:n.*2883C>T
ENST00000361492.8:c.3835C>T ENSP00000354586.4:p.His1279Tyr
ENST00000438299.5:c.*2543+391C>T ENSP00000400593.1:n.*2543+391C>T
ENST00000445186.5:c.*2934C>T ENSP00000397488.1:n.*2934C>T
ENST00000452319.5:c.3835C>T ENSP00000390436.1:p.His1279Tyr
ENST00000452319.6:c.3835C>T ENSP00000390436.1:p.His1279Tyr
ENST00000452692.5:c.*2492+391C>T ENSP00000403715.1:n.*2492+391C>T
XM_006712422.1:c.3784C>T XP_006712485.1:p.His1262Tyr
XM_006712422.3:c.3784C>T XP_006712485.1:p.His1262Tyr
XM_011510969.1:c.3817C>T XP_011509271.1:p.His1273Tyr
XM_011510969.2:c.4087C>T XP_011509271.2:p.His1363Tyr
XM_011510970.1:c.3694C>T XP_011509272.1:p.His1232Tyr
XM_011510970.2:c.3694C>T XP_011509272.1:p.His1232Tyr
XM_011510971.1:c.3640C>T XP_011509273.1:p.His1214Tyr
XM_011510971.2:c.3640C>T XP_011509273.1:p.His1214Tyr
XM_011510972.1:c.3640C>T XP_011509274.1:p.His1214Tyr
XM_011510972.2:c.3736C>T XP_011509274.2:p.His1246Tyr
XM_011510973.1:c.3460C>T XP_011509275.1:p.His1154Tyr
XM_011510973.2:c.3460C>T XP_011509275.1:p.His1154Tyr
XM_011510974.1:c.3409C>T XP_011509276.1:p.His1137Tyr
XM_011510974.2:c.3409C>T XP_011509276.1:p.His1137Tyr
XM_017003818.1:c.4036C>T XP_016859307.1:p.His1346Tyr
XM_024452794.1:c.3835C>T XP_024308562.1:p.His1279Tyr
XM_024452795.1:c.3835C>T XP_024308563.1:p.His1279Tyr