Canonical Allele Identifier: CA348161628

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736125G>T (hg19) ; chr2:g.120978549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978549G>T , CM000664.2:g.120978549G>T	GRCh38
NC_000002.11:g.121736125G>T , CM000664.1:g.121736125G>T	GRCh37
NC_000002.10:g.121452595G>T	NCBI36
NG_009030.1:g.186259G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1433G>T MANE Select	ENSP00000354586.5:p.Arg478Leu
ENST00000452319.6:c.1484G>T	ENSP00000390436.1:p.Arg495Leu
ENST00000314490.15:c.497G>T	ENSP00000312694.12:p.Arg166Leu
ENST00000341310.10:c.*532G>T	ENSP00000344473.6:n.*532G>T
ENST00000361492.8:c.1484G>T	ENSP00000354586.4:p.Arg495Leu
ENST00000435313.6:n.1458G>T
ENST00000437950.5:c.*583G>T	ENSP00000415773.1:n.*583G>T
ENST00000438299.5:c.*583G>T	ENSP00000400593.1:n.*583G>T
ENST00000445186.5:c.*583G>T	ENSP00000397488.1:n.*583G>T
ENST00000452319.5:c.1484G>T	ENSP00000390436.1:p.Arg495Leu
ENST00000452692.5:c.*532G>T	ENSP00000403715.1:n.*532G>T
NM_005270.4:c.1484G>T	NP_005261.2:p.Arg495Leu
XM_006712422.1:c.1433G>T	XP_006712485.1:p.Arg478Leu
XM_011510969.1:c.1466G>T	XP_011509271.1:p.Arg489Leu
XM_011510970.1:c.1343G>T	XP_011509272.1:p.Arg448Leu
XM_011510971.1:c.1289G>T	XP_011509273.1:p.Arg430Leu
XM_011510972.1:c.1289G>T	XP_011509274.1:p.Arg430Leu
XM_011510973.1:c.1109G>T	XP_011509275.1:p.Arg370Leu
XM_011510974.1:c.1058G>T	XP_011509276.1:p.Arg353Leu
XM_006712422.3:c.1433G>T	XP_006712485.1:p.Arg478Leu
XM_011510969.2:c.1736G>T	XP_011509271.2:p.Arg579Leu
XM_011510970.2:c.1343G>T	XP_011509272.1:p.Arg448Leu
XM_011510971.2:c.1289G>T	XP_011509273.1:p.Arg430Leu
XM_011510972.2:c.1385G>T	XP_011509274.2:p.Arg462Leu
XM_011510973.2:c.1109G>T	XP_011509275.1:p.Arg370Leu
XM_011510974.2:c.1058G>T	XP_011509276.1:p.Arg353Leu
XM_017003818.1:c.1685G>T	XP_016859307.1:p.Arg562Leu
XM_024452794.1:c.1484G>T	XP_024308562.1:p.Arg495Leu
XM_024452795.1:c.1484G>T	XP_024308563.1:p.Arg495Leu
NM_001371271.1:c.1484G>T	NP_001358200.1:p.Arg495Leu
NM_001374353.1:c.1433G>T MANE Select	NP_001361282.1:p.Arg478Leu
NM_001374354.1:c.1058G>T	NP_001361283.1:p.Arg353Leu
NM_005270.5:c.1484G>T	NP_005261.2:p.Arg495Leu