Canonical Allele Identifier: CA348180136

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748117C>A (hg19) ; chr2:g.120990541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990541C>A , CM000664.2:g.120990541C>A	GRCh38
NC_000002.11:g.121748117C>A , CM000664.1:g.121748117C>A	GRCh37
NC_000002.10:g.121464587C>A	NCBI36
NG_009030.1:g.198251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4576C>A MANE Select	ENSP00000354586.5:p.Arg1526Ser
ENST00000452319.6:c.4627C>A	ENSP00000390436.1:p.Arg1543Ser
ENST00000341310.10:c.*3675C>A	ENSP00000344473.6:n.*3675C>A
ENST00000361492.8:c.4627C>A	ENSP00000354586.4:p.Arg1543Ser
ENST00000438299.5:c.*2544-49C>A	ENSP00000400593.1:n.*2544-49C>A
ENST00000445186.5:c.*3726C>A	ENSP00000397488.1:n.*3726C>A
ENST00000452319.5:c.4627C>A	ENSP00000390436.1:p.Arg1543Ser
ENST00000452692.5:c.*2493-49C>A	ENSP00000403715.1:n.*2493-49C>A
NM_005270.4:c.4627C>A	NP_005261.2:p.Arg1543Ser
XM_006712422.1:c.4576C>A	XP_006712485.1:p.Arg1526Ser
XM_011510969.1:c.4609C>A	XP_011509271.1:p.Arg1537Ser
XM_011510970.1:c.4486C>A	XP_011509272.1:p.Arg1496Ser
XM_011510971.1:c.4432C>A	XP_011509273.1:p.Arg1478Ser
XM_011510972.1:c.4432C>A	XP_011509274.1:p.Arg1478Ser
XM_011510973.1:c.4252C>A	XP_011509275.1:p.Arg1418Ser
XM_011510974.1:c.4201C>A	XP_011509276.1:p.Arg1401Ser
XM_006712422.3:c.4576C>A	XP_006712485.1:p.Arg1526Ser
XM_011510969.2:c.4879C>A	XP_011509271.2:p.Arg1627Ser
XM_011510970.2:c.4486C>A	XP_011509272.1:p.Arg1496Ser
XM_011510971.2:c.4432C>A	XP_011509273.1:p.Arg1478Ser
XM_011510972.2:c.4528C>A	XP_011509274.2:p.Arg1510Ser
XM_011510973.2:c.4252C>A	XP_011509275.1:p.Arg1418Ser
XM_011510974.2:c.4201C>A	XP_011509276.1:p.Arg1401Ser
XM_017003818.1:c.4828C>A	XP_016859307.1:p.Arg1610Ser
XM_024452794.1:c.4627C>A	XP_024308562.1:p.Arg1543Ser
XM_024452795.1:c.4627C>A	XP_024308563.1:p.Arg1543Ser
NM_001371271.1:c.4627C>A	NP_001358200.1:p.Arg1543Ser
NM_001374353.1:c.4576C>A MANE Select	NP_001361282.1:p.Arg1526Ser
NM_001374354.1:c.4201C>A	NP_001361283.1:p.Arg1401Ser
NM_005270.5:c.4627C>A	NP_005261.2:p.Arg1543Ser