Canonical Allele Identifier: CA348171011

Gene: GLI2

Linked Data

• gnomAD v4: 2-120988975-C-A
• MyVariant Identifiers: chr2:g.121746551C>A (hg19) ; chr2:g.120988975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988975C>A , CM000664.2:g.120988975C>A	GRCh38
NC_000002.11:g.121746551C>A , CM000664.1:g.121746551C>A	GRCh37
NC_000002.10:g.121463021C>A	NCBI36
NG_009030.1:g.196685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3010C>A MANE Select	ENSP00000354586.5:p.Arg1004Ser
ENST00000452319.6:c.3061C>A	ENSP00000390436.1:p.Arg1021Ser
ENST00000341310.10:c.*2109C>A	ENSP00000344473.6:n.*2109C>A
ENST00000361492.8:c.3061C>A	ENSP00000354586.4:p.Arg1021Ser
ENST00000438299.5:c.*2160C>A	ENSP00000400593.1:n.*2160C>A
ENST00000445186.5:c.*2160C>A	ENSP00000397488.1:n.*2160C>A
ENST00000452319.5:c.3061C>A	ENSP00000390436.1:p.Arg1021Ser
ENST00000452692.5:c.*2109C>A	ENSP00000403715.1:n.*2109C>A
NM_005270.4:c.3061C>A	NP_005261.2:p.Arg1021Ser
XM_006712422.1:c.3010C>A	XP_006712485.1:p.Arg1004Ser
XM_011510969.1:c.3043C>A	XP_011509271.1:p.Arg1015Ser
XM_011510970.1:c.2920C>A	XP_011509272.1:p.Arg974Ser
XM_011510971.1:c.2866C>A	XP_011509273.1:p.Arg956Ser
XM_011510972.1:c.2866C>A	XP_011509274.1:p.Arg956Ser
XM_011510973.1:c.2686C>A	XP_011509275.1:p.Arg896Ser
XM_011510974.1:c.2635C>A	XP_011509276.1:p.Arg879Ser
XM_006712422.3:c.3010C>A	XP_006712485.1:p.Arg1004Ser
XM_011510969.2:c.3313C>A	XP_011509271.2:p.Arg1105Ser
XM_011510970.2:c.2920C>A	XP_011509272.1:p.Arg974Ser
XM_011510971.2:c.2866C>A	XP_011509273.1:p.Arg956Ser
XM_011510972.2:c.2962C>A	XP_011509274.2:p.Arg988Ser
XM_011510973.2:c.2686C>A	XP_011509275.1:p.Arg896Ser
XM_011510974.2:c.2635C>A	XP_011509276.1:p.Arg879Ser
XM_017003818.1:c.3262C>A	XP_016859307.1:p.Arg1088Ser
XM_024452794.1:c.3061C>A	XP_024308562.1:p.Arg1021Ser
XM_024452795.1:c.3061C>A	XP_024308563.1:p.Arg1021Ser
NM_001371271.1:c.3061C>A	NP_001358200.1:p.Arg1021Ser
NM_001374353.1:c.3010C>A MANE Select	NP_001361282.1:p.Arg1004Ser
NM_001374354.1:c.2635C>A	NP_001361283.1:p.Arg879Ser
NM_005270.5:c.3061C>A	NP_005261.2:p.Arg1021Ser