Canonical Allele Identifier: CA201041

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989504G>A , CM000664.2:g.120989504G>A	GRCh38
NC_000002.11:g.121747080G>A , CM000664.1:g.121747080G>A	GRCh37
NC_000002.10:g.121463550G>A	NCBI36
NG_009030.1:g.197214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3539G>A MANE Select	ENSP00000354586.5:p.Gly1180Asp
ENST00000452319.6:c.3590G>A	ENSP00000390436.1:p.Gly1197Asp
ENST00000341310.10:c.*2638G>A	ENSP00000344473.6:n.*2638G>A
ENST00000361492.8:c.3590G>A	ENSP00000354586.4:p.Gly1197Asp
ENST00000438299.5:c.*2543+146G>A	ENSP00000400593.1:n.*2543+146G>A
ENST00000445186.5:c.*2689G>A	ENSP00000397488.1:n.*2689G>A
ENST00000452319.5:c.3590G>A	ENSP00000390436.1:p.Gly1197Asp
ENST00000452692.5:c.*2492+146G>A	ENSP00000403715.1:n.*2492+146G>A
NM_005270.4:c.3590G>A	NP_005261.2:p.Gly1197Asp
XM_006712422.1:c.3539G>A	XP_006712485.1:p.Gly1180Asp
XM_011510969.1:c.3572G>A	XP_011509271.1:p.Gly1191Asp
XM_011510970.1:c.3449G>A	XP_011509272.1:p.Gly1150Asp
XM_011510971.1:c.3395G>A	XP_011509273.1:p.Gly1132Asp
XM_011510972.1:c.3395G>A	XP_011509274.1:p.Gly1132Asp
XM_011510973.1:c.3215G>A	XP_011509275.1:p.Gly1072Asp
XM_011510974.1:c.3164G>A	XP_011509276.1:p.Gly1055Asp
XM_006712422.3:c.3539G>A	XP_006712485.1:p.Gly1180Asp
XM_011510969.2:c.3842G>A	XP_011509271.2:p.Gly1281Asp
XM_011510970.2:c.3449G>A	XP_011509272.1:p.Gly1150Asp
XM_011510971.2:c.3395G>A	XP_011509273.1:p.Gly1132Asp
XM_011510972.2:c.3491G>A	XP_011509274.2:p.Gly1164Asp
XM_011510973.2:c.3215G>A	XP_011509275.1:p.Gly1072Asp
XM_011510974.2:c.3164G>A	XP_011509276.1:p.Gly1055Asp
XM_017003818.1:c.3791G>A	XP_016859307.1:p.Gly1264Asp
XM_024452794.1:c.3590G>A	XP_024308562.1:p.Gly1197Asp
XM_024452795.1:c.3590G>A	XP_024308563.1:p.Gly1197Asp
NM_001371271.1:c.3590G>A	NP_001358200.1:p.Gly1197Asp
NM_001374353.1:c.3539G>A MANE Select	NP_001361282.1:p.Gly1180Asp
NM_001374354.1:c.3164G>A	NP_001361283.1:p.Gly1055Asp
NM_005270.5:c.3590G>A	NP_005261.2:p.Gly1197Asp