Canonical Allele Identifier: CA348171020

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746552G>C (hg19) ; chr2:g.120988976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988976G>C , CM000664.2:g.120988976G>C	GRCh38
NC_000002.11:g.121746552G>C , CM000664.1:g.121746552G>C	GRCh37
NC_000002.10:g.121463022G>C	NCBI36
NG_009030.1:g.196686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3011G>C MANE Select	ENSP00000354586.5:p.Arg1004Pro
ENST00000452319.6:c.3062G>C	ENSP00000390436.1:p.Arg1021Pro
ENST00000341310.10:c.*2110G>C	ENSP00000344473.6:n.*2110G>C
ENST00000361492.8:c.3062G>C	ENSP00000354586.4:p.Arg1021Pro
ENST00000438299.5:c.*2161G>C	ENSP00000400593.1:n.*2161G>C
ENST00000445186.5:c.*2161G>C	ENSP00000397488.1:n.*2161G>C
ENST00000452319.5:c.3062G>C	ENSP00000390436.1:p.Arg1021Pro
ENST00000452692.5:c.*2110G>C	ENSP00000403715.1:n.*2110G>C
NM_005270.4:c.3062G>C	NP_005261.2:p.Arg1021Pro
XM_006712422.1:c.3011G>C	XP_006712485.1:p.Arg1004Pro
XM_011510969.1:c.3044G>C	XP_011509271.1:p.Arg1015Pro
XM_011510970.1:c.2921G>C	XP_011509272.1:p.Arg974Pro
XM_011510971.1:c.2867G>C	XP_011509273.1:p.Arg956Pro
XM_011510972.1:c.2867G>C	XP_011509274.1:p.Arg956Pro
XM_011510973.1:c.2687G>C	XP_011509275.1:p.Arg896Pro
XM_011510974.1:c.2636G>C	XP_011509276.1:p.Arg879Pro
XM_006712422.3:c.3011G>C	XP_006712485.1:p.Arg1004Pro
XM_011510969.2:c.3314G>C	XP_011509271.2:p.Arg1105Pro
XM_011510970.2:c.2921G>C	XP_011509272.1:p.Arg974Pro
XM_011510971.2:c.2867G>C	XP_011509273.1:p.Arg956Pro
XM_011510972.2:c.2963G>C	XP_011509274.2:p.Arg988Pro
XM_011510973.2:c.2687G>C	XP_011509275.1:p.Arg896Pro
XM_011510974.2:c.2636G>C	XP_011509276.1:p.Arg879Pro
XM_017003818.1:c.3263G>C	XP_016859307.1:p.Arg1088Pro
XM_024452794.1:c.3062G>C	XP_024308562.1:p.Arg1021Pro
XM_024452795.1:c.3062G>C	XP_024308563.1:p.Arg1021Pro
NM_001371271.1:c.3062G>C	NP_001358200.1:p.Arg1021Pro
NM_001374353.1:c.3011G>C MANE Select	NP_001361282.1:p.Arg1004Pro
NM_001374354.1:c.2636G>C	NP_001361283.1:p.Arg879Pro
NM_005270.5:c.3062G>C	NP_005261.2:p.Arg1021Pro