Canonical Allele Identifier: CA348161366
Gene: GLI2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978435A>T , CM000664.2:g.120978435A>T GRCh38
NC_000002.11:g.121736011A>T , CM000664.1:g.121736011A>T GRCh37
NC_000002.10:g.121452481A>T NCBI36
NG_009030.1:g.186145A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1319A>T MANE Select ENSP00000354586.5:p.His440Leu
ENST00000452319.6:c.1370A>T ENSP00000390436.1:p.His457Leu
ENST00000314490.15:c.383A>T ENSP00000312694.12:p.His128Leu
ENST00000341310.10:c.*418A>T ENSP00000344473.6:n.*418A>T
ENST00000361492.8:c.1370A>T ENSP00000354586.4:p.His457Leu
ENST00000435313.6:n.1344A>T
ENST00000437950.5:c.*469A>T ENSP00000415773.1:n.*469A>T
ENST00000438299.5:c.*469A>T ENSP00000400593.1:n.*469A>T
ENST00000445186.5:c.*469A>T ENSP00000397488.1:n.*469A>T
ENST00000452319.5:c.1370A>T ENSP00000390436.1:p.His457Leu
ENST00000452692.5:c.*418A>T ENSP00000403715.1:n.*418A>T
NM_005270.4:c.1370A>T NP_005261.2:p.His457Leu
XM_006712422.1:c.1319A>T XP_006712485.1:p.His440Leu
XM_011510969.1:c.1352A>T XP_011509271.1:p.His451Leu
XM_011510970.1:c.1229A>T XP_011509272.1:p.His410Leu
XM_011510971.1:c.1175A>T XP_011509273.1:p.His392Leu
XM_011510972.1:c.1175A>T XP_011509274.1:p.His392Leu
XM_011510973.1:c.995A>T XP_011509275.1:p.His332Leu
XM_011510974.1:c.944A>T XP_011509276.1:p.His315Leu
XM_006712422.3:c.1319A>T XP_006712485.1:p.His440Leu
XM_011510969.2:c.1622A>T XP_011509271.2:p.His541Leu
XM_011510970.2:c.1229A>T XP_011509272.1:p.His410Leu
XM_011510971.2:c.1175A>T XP_011509273.1:p.His392Leu
XM_011510972.2:c.1271A>T XP_011509274.2:p.His424Leu
XM_011510973.2:c.995A>T XP_011509275.1:p.His332Leu
XM_011510974.2:c.944A>T XP_011509276.1:p.His315Leu
XM_017003818.1:c.1571A>T XP_016859307.1:p.His524Leu
XM_024452794.1:c.1370A>T XP_024308562.1:p.His457Leu
XM_024452795.1:c.1370A>T XP_024308563.1:p.His457Leu
NM_001371271.1:c.1370A>T NP_001358200.1:p.His457Leu
NM_001374353.1:c.1319A>T MANE Select NP_001361282.1:p.His440Leu
NM_001374354.1:c.944A>T NP_001361283.1:p.His315Leu
NM_005270.5:c.1370A>T NP_005261.2:p.His457Leu