Canonical Allele Identifier: CA2660922222

Gene: GLI2

Linked Data

• gnomAD v4: 2-120989056-G-GGGCCCGAGGCCGACCTGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989057_120989077dup , CM000664.2:g.120989057_120989077dup	GRCh38
NC_000002.11:g.121746633_121746653dup , CM000664.1:g.121746633_121746653dup	GRCh37
NC_000002.10:g.121463103_121463123dup	NCBI36
NG_009030.1:g.196767_196787dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3092_3112dup MANE Select	ENSP00000354586.5:p.Gly1037_Leu1038insArg...
ENST00000452319.6:c.3143_3163dup	ENSP00000390436.1:p.Gly1054_Leu1055insArg...
ENST00000341310.10:c.*2191_*2211dup	ENSP00000344473.6:n.*2191_*2211dup
ENST00000361492.8:c.3143_3163dup	ENSP00000354586.4:p.Gly1054_Leu1055insArg...
ENST00000438299.5:c.*2242_*2262dup	ENSP00000400593.1:n.*2242_*2262dup
ENST00000445186.5:c.*2242_*2262dup	ENSP00000397488.1:n.*2242_*2262dup
ENST00000452319.5:c.3143_3163dup	ENSP00000390436.1:p.Gly1054_Leu1055insArg...
ENST00000452692.5:c.*2191_*2211dup	ENSP00000403715.1:n.*2191_*2211dup
NM_005270.4:c.3143_3163dup	NP_005261.2:p.Gly1054_Leu1055insArgProGlu...
XM_006712422.1:c.3092_3112dup	XP_006712485.1:p.Gly1037_Leu1038insArgPro...
XM_011510969.1:c.3125_3145dup	XP_011509271.1:p.Gly1048_Leu1049insArgPro...
XM_011510970.1:c.3002_3022dup	XP_011509272.1:p.Gly1007_Leu1008insArgPro...
XM_011510971.1:c.2948_2968dup	XP_011509273.1:p.Gly989_Leu990insArgProGl...
XM_011510972.1:c.2948_2968dup	XP_011509274.1:p.Gly989_Leu990insArgProGl...
XM_011510973.1:c.2768_2788dup	XP_011509275.1:p.Gly929_Leu930insArgProGl...
XM_011510974.1:c.2717_2737dup	XP_011509276.1:p.Gly912_Leu913insArgProGl...
XM_006712422.3:c.3092_3112dup	XP_006712485.1:p.Gly1037_Leu1038insArgPro...
XM_011510969.2:c.3395_3415dup	XP_011509271.2:p.Gly1138_Leu1139insArgPro...
XM_011510970.2:c.3002_3022dup	XP_011509272.1:p.Gly1007_Leu1008insArgPro...
XM_011510971.2:c.2948_2968dup	XP_011509273.1:p.Gly989_Leu990insArgProGl...
XM_011510972.2:c.3044_3064dup	XP_011509274.2:p.Gly1021_Leu1022insArgPro...
XM_011510973.2:c.2768_2788dup	XP_011509275.1:p.Gly929_Leu930insArgProGl...
XM_011510974.2:c.2717_2737dup	XP_011509276.1:p.Gly912_Leu913insArgProGl...
XM_017003818.1:c.3344_3364dup	XP_016859307.1:p.Gly1121_Leu1122insArgPro...
XM_024452794.1:c.3143_3163dup	XP_024308562.1:p.Gly1054_Leu1055insArgPro...
XM_024452795.1:c.3143_3163dup	XP_024308563.1:p.Gly1054_Leu1055insArgPro...
NM_001371271.1:c.3143_3163dup	NP_001358200.1:p.Gly1054_Leu1055insArgPro...
NM_001374353.1:c.3092_3112dup MANE Select	NP_001361282.1:p.Gly1037_Leu1038insArgPro...
NM_001374354.1:c.2717_2737dup	NP_001361283.1:p.Gly912_Leu913insArgProGl...
NM_005270.5:c.3143_3163dup	NP_005261.2:p.Gly1054_Leu1055insArgProGlu...