Canonical Allele Identifier: CA348161528
Gene: GLI2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978506C>T , CM000664.2:g.120978506C>T GRCh38
NC_000002.11:g.121736082C>T , CM000664.1:g.121736082C>T GRCh37
NC_000002.10:g.121452552C>T NCBI36
NG_009030.1:g.186216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1390C>T MANE Select ENSP00000354586.5:p.Gln464Ter
ENST00000452319.6:c.1441C>T ENSP00000390436.1:p.Gln481Ter
ENST00000314490.15:c.454C>T ENSP00000312694.12:p.Gln152Ter
ENST00000341310.10:c.*489C>T ENSP00000344473.6:n.*489C>T
ENST00000361492.8:c.1441C>T ENSP00000354586.4:p.Gln481Ter
ENST00000435313.6:n.1415C>T
ENST00000437950.5:c.*540C>T ENSP00000415773.1:n.*540C>T
ENST00000438299.5:c.*540C>T ENSP00000400593.1:n.*540C>T
ENST00000445186.5:c.*540C>T ENSP00000397488.1:n.*540C>T
ENST00000452319.5:c.1441C>T ENSP00000390436.1:p.Gln481Ter
ENST00000452692.5:c.*489C>T ENSP00000403715.1:n.*489C>T
NM_005270.4:c.1441C>T NP_005261.2:p.Gln481Ter
XM_006712422.1:c.1390C>T XP_006712485.1:p.Gln464Ter
XM_011510969.1:c.1423C>T XP_011509271.1:p.Gln475Ter
XM_011510970.1:c.1300C>T XP_011509272.1:p.Gln434Ter
XM_011510971.1:c.1246C>T XP_011509273.1:p.Gln416Ter
XM_011510972.1:c.1246C>T XP_011509274.1:p.Gln416Ter
XM_011510973.1:c.1066C>T XP_011509275.1:p.Gln356Ter
XM_011510974.1:c.1015C>T XP_011509276.1:p.Gln339Ter
XM_006712422.3:c.1390C>T XP_006712485.1:p.Gln464Ter
XM_011510969.2:c.1693C>T XP_011509271.2:p.Gln565Ter
XM_011510970.2:c.1300C>T XP_011509272.1:p.Gln434Ter
XM_011510971.2:c.1246C>T XP_011509273.1:p.Gln416Ter
XM_011510972.2:c.1342C>T XP_011509274.2:p.Gln448Ter
XM_011510973.2:c.1066C>T XP_011509275.1:p.Gln356Ter
XM_011510974.2:c.1015C>T XP_011509276.1:p.Gln339Ter
XM_017003818.1:c.1642C>T XP_016859307.1:p.Gln548Ter
XM_024452794.1:c.1441C>T XP_024308562.1:p.Gln481Ter
XM_024452795.1:c.1441C>T XP_024308563.1:p.Gln481Ter
NM_001371271.1:c.1441C>T NP_001358200.1:p.Gln481Ter
NM_001374353.1:c.1390C>T MANE Select NP_001361282.1:p.Gln464Ter
NM_001374354.1:c.1015C>T NP_001361283.1:p.Gln339Ter
NM_005270.5:c.1441C>T NP_005261.2:p.Gln481Ter