Canonical Allele Identifier: CA348173122

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746757A>T (hg19) ; chr2:g.120989181A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989181A>T , CM000664.2:g.120989181A>T	GRCh38
NC_000002.11:g.121746757A>T , CM000664.1:g.121746757A>T	GRCh37
NC_000002.10:g.121463227A>T	NCBI36
NG_009030.1:g.196891A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3216A>T MANE Select	ENSP00000354586.5:p.Glu1072Asp
ENST00000452319.6:c.3267A>T	ENSP00000390436.1:p.Glu1089Asp
ENST00000341310.10:c.*2315A>T	ENSP00000344473.6:n.*2315A>T
ENST00000361492.8:c.3267A>T	ENSP00000354586.4:p.Glu1089Asp
ENST00000438299.5:c.*2366A>T	ENSP00000400593.1:n.*2366A>T
ENST00000445186.5:c.*2366A>T	ENSP00000397488.1:n.*2366A>T
ENST00000452319.5:c.3267A>T	ENSP00000390436.1:p.Glu1089Asp
ENST00000452692.5:c.*2315A>T	ENSP00000403715.1:n.*2315A>T
NM_005270.4:c.3267A>T	NP_005261.2:p.Glu1089Asp
XM_006712422.1:c.3216A>T	XP_006712485.1:p.Glu1072Asp
XM_011510969.1:c.3249A>T	XP_011509271.1:p.Glu1083Asp
XM_011510970.1:c.3126A>T	XP_011509272.1:p.Glu1042Asp
XM_011510971.1:c.3072A>T	XP_011509273.1:p.Glu1024Asp
XM_011510972.1:c.3072A>T	XP_011509274.1:p.Glu1024Asp
XM_011510973.1:c.2892A>T	XP_011509275.1:p.Glu964Asp
XM_011510974.1:c.2841A>T	XP_011509276.1:p.Glu947Asp
XM_006712422.3:c.3216A>T	XP_006712485.1:p.Glu1072Asp
XM_011510969.2:c.3519A>T	XP_011509271.2:p.Glu1173Asp
XM_011510970.2:c.3126A>T	XP_011509272.1:p.Glu1042Asp
XM_011510971.2:c.3072A>T	XP_011509273.1:p.Glu1024Asp
XM_011510972.2:c.3168A>T	XP_011509274.2:p.Glu1056Asp
XM_011510973.2:c.2892A>T	XP_011509275.1:p.Glu964Asp
XM_011510974.2:c.2841A>T	XP_011509276.1:p.Glu947Asp
XM_017003818.1:c.3468A>T	XP_016859307.1:p.Glu1156Asp
XM_024452794.1:c.3267A>T	XP_024308562.1:p.Glu1089Asp
XM_024452795.1:c.3267A>T	XP_024308563.1:p.Glu1089Asp
NM_001371271.1:c.3267A>T	NP_001358200.1:p.Glu1089Asp
NM_001374353.1:c.3216A>T MANE Select	NP_001361282.1:p.Glu1072Asp
NM_001374354.1:c.2841A>T	NP_001361283.1:p.Glu947Asp
NM_005270.5:c.3267A>T	NP_005261.2:p.Glu1089Asp