Canonical Allele Identifier: CA348172509

Gene: GLI2

Linked Data

• dbSNP Id: rs1258559138
• gnomAD v2: 2-121746659-G-A
• MyVariant Identifiers: chr2:g.121746659G>A (hg19) ; chr2:g.120989083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989083G>A , CM000664.2:g.120989083G>A	GRCh38
NC_000002.11:g.121746659G>A , CM000664.1:g.121746659G>A	GRCh37
NC_000002.10:g.121463129G>A	NCBI36
NG_009030.1:g.196793G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3118G>A MANE Select	ENSP00000354586.5:p.Glu1040Lys
ENST00000452319.6:c.3169G>A	ENSP00000390436.1:p.Glu1057Lys
ENST00000341310.10:c.*2217G>A	ENSP00000344473.6:n.*2217G>A
ENST00000361492.8:c.3169G>A	ENSP00000354586.4:p.Glu1057Lys
ENST00000438299.5:c.*2268G>A	ENSP00000400593.1:n.*2268G>A
ENST00000445186.5:c.*2268G>A	ENSP00000397488.1:n.*2268G>A
ENST00000452319.5:c.3169G>A	ENSP00000390436.1:p.Glu1057Lys
ENST00000452692.5:c.*2217G>A	ENSP00000403715.1:n.*2217G>A
NM_005270.4:c.3169G>A	NP_005261.2:p.Glu1057Lys
XM_006712422.1:c.3118G>A	XP_006712485.1:p.Glu1040Lys
XM_011510969.1:c.3151G>A	XP_011509271.1:p.Glu1051Lys
XM_011510970.1:c.3028G>A	XP_011509272.1:p.Glu1010Lys
XM_011510971.1:c.2974G>A	XP_011509273.1:p.Glu992Lys
XM_011510972.1:c.2974G>A	XP_011509274.1:p.Glu992Lys
XM_011510973.1:c.2794G>A	XP_011509275.1:p.Glu932Lys
XM_011510974.1:c.2743G>A	XP_011509276.1:p.Glu915Lys
XM_006712422.3:c.3118G>A	XP_006712485.1:p.Glu1040Lys
XM_011510969.2:c.3421G>A	XP_011509271.2:p.Glu1141Lys
XM_011510970.2:c.3028G>A	XP_011509272.1:p.Glu1010Lys
XM_011510971.2:c.2974G>A	XP_011509273.1:p.Glu992Lys
XM_011510972.2:c.3070G>A	XP_011509274.2:p.Glu1024Lys
XM_011510973.2:c.2794G>A	XP_011509275.1:p.Glu932Lys
XM_011510974.2:c.2743G>A	XP_011509276.1:p.Glu915Lys
XM_017003818.1:c.3370G>A	XP_016859307.1:p.Glu1124Lys
XM_024452794.1:c.3169G>A	XP_024308562.1:p.Glu1057Lys
XM_024452795.1:c.3169G>A	XP_024308563.1:p.Glu1057Lys
NM_001371271.1:c.3169G>A	NP_001358200.1:p.Glu1057Lys
NM_001374353.1:c.3118G>A MANE Select	NP_001361282.1:p.Glu1040Lys
NM_001374354.1:c.2743G>A	NP_001361283.1:p.Glu915Lys
NM_005270.5:c.3169G>A	NP_005261.2:p.Glu1057Lys