Canonical Allele Identifier: CA428229929

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736075G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978499G>C , CM000664.2:g.120978499G>C	GRCh38
NC_000002.11:g.121736075G>C , CM000664.1:g.121736075G>C	GRCh37
NC_000002.10:g.121452545G>C	NCBI36
NG_009030.1:g.186209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1383G>C MANE Select	ENSP00000354586.5:p.Thr461=
ENST00000452319.6:c.1434G>C	ENSP00000390436.1:p.Thr478=
ENST00000314490.15:c.447G>C	ENSP00000312694.12:p.Thr149=
ENST00000341310.10:c.*482G>C	ENSP00000344473.6:n.*482G>C
ENST00000361492.8:c.1434G>C	ENSP00000354586.4:p.Thr478=
ENST00000435313.6:n.1408G>C
ENST00000437950.5:c.*533G>C	ENSP00000415773.1:n.*533G>C
ENST00000438299.5:c.*533G>C	ENSP00000400593.1:n.*533G>C
ENST00000445186.5:c.*533G>C	ENSP00000397488.1:n.*533G>C
ENST00000452319.5:c.1434G>C	ENSP00000390436.1:p.Thr478=
ENST00000452692.5:c.*482G>C	ENSP00000403715.1:n.*482G>C
NM_005270.4:c.1434G>C	NP_005261.2:p.Thr478=
XM_006712422.1:c.1383G>C	XP_006712485.1:p.Thr461=
XM_011510969.1:c.1416G>C	XP_011509271.1:p.Thr472=
XM_011510970.1:c.1293G>C	XP_011509272.1:p.Thr431=
XM_011510971.1:c.1239G>C	XP_011509273.1:p.Thr413=
XM_011510972.1:c.1239G>C	XP_011509274.1:p.Thr413=
XM_011510973.1:c.1059G>C	XP_011509275.1:p.Thr353=
XM_011510974.1:c.1008G>C	XP_011509276.1:p.Thr336=
XM_006712422.3:c.1383G>C	XP_006712485.1:p.Thr461=
XM_011510969.2:c.1686G>C	XP_011509271.2:p.Thr562=
XM_011510970.2:c.1293G>C	XP_011509272.1:p.Thr431=
XM_011510971.2:c.1239G>C	XP_011509273.1:p.Thr413=
XM_011510972.2:c.1335G>C	XP_011509274.2:p.Thr445=
XM_011510973.2:c.1059G>C	XP_011509275.1:p.Thr353=
XM_011510974.2:c.1008G>C	XP_011509276.1:p.Thr336=
XM_017003818.1:c.1635G>C	XP_016859307.1:p.Thr545=
XM_024452794.1:c.1434G>C	XP_024308562.1:p.Thr478=
XM_024452795.1:c.1434G>C	XP_024308563.1:p.Thr478=
NM_001371271.1:c.1434G>C	NP_001358200.1:p.Thr478=
NM_001374353.1:c.1383G>C MANE Select	NP_001361282.1:p.Thr461=
NM_001374354.1:c.1008G>C	NP_001361283.1:p.Thr336=
NM_005270.5:c.1434G>C	NP_005261.2:p.Thr478=