Canonical Allele Identifier: CA2660922223

Gene: GLI2

Linked Data

• gnomAD v4: 2-120989061-C-CGAGGCCGACCTGGGGCTGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989066_120989086dup , CM000664.2:g.120989066_120989086dup	GRCh38
NC_000002.11:g.121746642_121746662dup , CM000664.1:g.121746642_121746662dup	GRCh37
NC_000002.10:g.121463112_121463132dup	NCBI36
NG_009030.1:g.196776_196796dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3101_3121dup MANE Select	ENSP00000354586.5:p.Glu1040_Asp1041insAla...
ENST00000452319.6:c.3152_3172dup	ENSP00000390436.1:p.Glu1057_Asp1058insAla...
ENST00000341310.10:c.*2200_*2220dup	ENSP00000344473.6:n.*2200_*2220dup
ENST00000361492.8:c.3152_3172dup	ENSP00000354586.4:p.Glu1057_Asp1058insAla...
ENST00000438299.5:c.*2251_*2271dup	ENSP00000400593.1:n.*2251_*2271dup
ENST00000445186.5:c.*2251_*2271dup	ENSP00000397488.1:n.*2251_*2271dup
ENST00000452319.5:c.3152_3172dup	ENSP00000390436.1:p.Glu1057_Asp1058insAla...
ENST00000452692.5:c.*2200_*2220dup	ENSP00000403715.1:n.*2200_*2220dup
NM_005270.4:c.3152_3172dup	NP_005261.2:p.Glu1057_Asp1058insAlaAspLeu...
XM_006712422.1:c.3101_3121dup	XP_006712485.1:p.Glu1040_Asp1041insAlaAsp...
XM_011510969.1:c.3134_3154dup	XP_011509271.1:p.Glu1051_Asp1052insAlaAsp...
XM_011510970.1:c.3011_3031dup	XP_011509272.1:p.Glu1010_Asp1011insAlaAsp...
XM_011510971.1:c.2957_2977dup	XP_011509273.1:p.Glu992_Asp993insAlaAspLe...
XM_011510972.1:c.2957_2977dup	XP_011509274.1:p.Glu992_Asp993insAlaAspLe...
XM_011510973.1:c.2777_2797dup	XP_011509275.1:p.Glu932_Asp933insAlaAspLe...
XM_011510974.1:c.2726_2746dup	XP_011509276.1:p.Glu915_Asp916insAlaAspLe...
XM_006712422.3:c.3101_3121dup	XP_006712485.1:p.Glu1040_Asp1041insAlaAsp...
XM_011510969.2:c.3404_3424dup	XP_011509271.2:p.Glu1141_Asp1142insAlaAsp...
XM_011510970.2:c.3011_3031dup	XP_011509272.1:p.Glu1010_Asp1011insAlaAsp...
XM_011510971.2:c.2957_2977dup	XP_011509273.1:p.Glu992_Asp993insAlaAspLe...
XM_011510972.2:c.3053_3073dup	XP_011509274.2:p.Glu1024_Asp1025insAlaAsp...
XM_011510973.2:c.2777_2797dup	XP_011509275.1:p.Glu932_Asp933insAlaAspLe...
XM_011510974.2:c.2726_2746dup	XP_011509276.1:p.Glu915_Asp916insAlaAspLe...
XM_017003818.1:c.3353_3373dup	XP_016859307.1:p.Glu1124_Asp1125insAlaAsp...
XM_024452794.1:c.3152_3172dup	XP_024308562.1:p.Glu1057_Asp1058insAlaAsp...
XM_024452795.1:c.3152_3172dup	XP_024308563.1:p.Glu1057_Asp1058insAlaAsp...
NM_001371271.1:c.3152_3172dup	NP_001358200.1:p.Glu1057_Asp1058insAlaAsp...
NM_001374353.1:c.3101_3121dup MANE Select	NP_001361282.1:p.Glu1040_Asp1041insAlaAsp...
NM_001374354.1:c.2726_2746dup	NP_001361283.1:p.Glu915_Asp916insAlaAspLe...
NM_005270.5:c.3152_3172dup	NP_005261.2:p.Glu1057_Asp1058insAlaAspLeu...