Canonical Allele Identifier: CA348161592
Gene: GLI2 HGNC NCBI

Linked Data

dbSNP Id: rs760286217

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978533C>G , CM000664.2:g.120978533C>G GRCh38
NC_000002.11:g.121736109C>G , CM000664.1:g.121736109C>G GRCh37
NC_000002.10:g.121452579C>G NCBI36
NG_009030.1:g.186243C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1417C>G MANE Select ENSP00000354586.5:p.Leu473Val
ENST00000452319.6:c.1468C>G ENSP00000390436.1:p.Leu490Val
ENST00000314490.15:c.481C>G ENSP00000312694.12:p.Leu161Val
ENST00000341310.10:c.*516C>G ENSP00000344473.6:n.*516C>G
ENST00000361492.8:c.1468C>G ENSP00000354586.4:p.Leu490Val
ENST00000435313.6:n.1442C>G
ENST00000437950.5:c.*567C>G ENSP00000415773.1:n.*567C>G
ENST00000438299.5:c.*567C>G ENSP00000400593.1:n.*567C>G
ENST00000445186.5:c.*567C>G ENSP00000397488.1:n.*567C>G
ENST00000452319.5:c.1468C>G ENSP00000390436.1:p.Leu490Val
ENST00000452692.5:c.*516C>G ENSP00000403715.1:n.*516C>G
NM_005270.4:c.1468C>G NP_005261.2:p.Leu490Val
XM_006712422.1:c.1417C>G XP_006712485.1:p.Leu473Val
XM_011510969.1:c.1450C>G XP_011509271.1:p.Leu484Val
XM_011510970.1:c.1327C>G XP_011509272.1:p.Leu443Val
XM_011510971.1:c.1273C>G XP_011509273.1:p.Leu425Val
XM_011510972.1:c.1273C>G XP_011509274.1:p.Leu425Val
XM_011510973.1:c.1093C>G XP_011509275.1:p.Leu365Val
XM_011510974.1:c.1042C>G XP_011509276.1:p.Leu348Val
XM_006712422.3:c.1417C>G XP_006712485.1:p.Leu473Val
XM_011510969.2:c.1720C>G XP_011509271.2:p.Leu574Val
XM_011510970.2:c.1327C>G XP_011509272.1:p.Leu443Val
XM_011510971.2:c.1273C>G XP_011509273.1:p.Leu425Val
XM_011510972.2:c.1369C>G XP_011509274.2:p.Leu457Val
XM_011510973.2:c.1093C>G XP_011509275.1:p.Leu365Val
XM_011510974.2:c.1042C>G XP_011509276.1:p.Leu348Val
XM_017003818.1:c.1669C>G XP_016859307.1:p.Leu557Val
XM_024452794.1:c.1468C>G XP_024308562.1:p.Leu490Val
XM_024452795.1:c.1468C>G XP_024308563.1:p.Leu490Val
NM_001371271.1:c.1468C>G NP_001358200.1:p.Leu490Val
NM_001374353.1:c.1417C>G MANE Select NP_001361282.1:p.Leu473Val
NM_001374354.1:c.1042C>G NP_001361283.1:p.Leu348Val
NM_005270.5:c.1468C>G NP_005261.2:p.Leu490Val