Canonical Allele Identifier: CA348161481

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736061T>A (hg19) ; chr2:g.120978485T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978485T>A , CM000664.2:g.120978485T>A	GRCh38
NC_000002.11:g.121736061T>A , CM000664.1:g.121736061T>A	GRCh37
NC_000002.10:g.121452531T>A	NCBI36
NG_009030.1:g.186195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1369T>A MANE Select	ENSP00000354586.5:p.Trp457Arg
ENST00000452319.6:c.1420T>A	ENSP00000390436.1:p.Trp474Arg
ENST00000314490.15:c.433T>A	ENSP00000312694.12:p.Trp145Arg
ENST00000341310.10:c.*468T>A	ENSP00000344473.6:n.*468T>A
ENST00000361492.8:c.1420T>A	ENSP00000354586.4:p.Trp474Arg
ENST00000435313.6:n.1394T>A
ENST00000437950.5:c.*519T>A	ENSP00000415773.1:n.*519T>A
ENST00000438299.5:c.*519T>A	ENSP00000400593.1:n.*519T>A
ENST00000445186.5:c.*519T>A	ENSP00000397488.1:n.*519T>A
ENST00000452319.5:c.1420T>A	ENSP00000390436.1:p.Trp474Arg
ENST00000452692.5:c.*468T>A	ENSP00000403715.1:n.*468T>A
NM_005270.4:c.1420T>A	NP_005261.2:p.Trp474Arg
XM_006712422.1:c.1369T>A	XP_006712485.1:p.Trp457Arg
XM_011510969.1:c.1402T>A	XP_011509271.1:p.Trp468Arg
XM_011510970.1:c.1279T>A	XP_011509272.1:p.Trp427Arg
XM_011510971.1:c.1225T>A	XP_011509273.1:p.Trp409Arg
XM_011510972.1:c.1225T>A	XP_011509274.1:p.Trp409Arg
XM_011510973.1:c.1045T>A	XP_011509275.1:p.Trp349Arg
XM_011510974.1:c.994T>A	XP_011509276.1:p.Trp332Arg
XM_006712422.3:c.1369T>A	XP_006712485.1:p.Trp457Arg
XM_011510969.2:c.1672T>A	XP_011509271.2:p.Trp558Arg
XM_011510970.2:c.1279T>A	XP_011509272.1:p.Trp427Arg
XM_011510971.2:c.1225T>A	XP_011509273.1:p.Trp409Arg
XM_011510972.2:c.1321T>A	XP_011509274.2:p.Trp441Arg
XM_011510973.2:c.1045T>A	XP_011509275.1:p.Trp349Arg
XM_011510974.2:c.994T>A	XP_011509276.1:p.Trp332Arg
XM_017003818.1:c.1621T>A	XP_016859307.1:p.Trp541Arg
XM_024452794.1:c.1420T>A	XP_024308562.1:p.Trp474Arg
XM_024452795.1:c.1420T>A	XP_024308563.1:p.Trp474Arg
NM_001371271.1:c.1420T>A	NP_001358200.1:p.Trp474Arg
NM_001374353.1:c.1369T>A MANE Select	NP_001361282.1:p.Trp457Arg
NM_001374354.1:c.994T>A	NP_001361283.1:p.Trp332Arg
NM_005270.5:c.1420T>A	NP_005261.2:p.Trp474Arg