Canonical Allele Identifier: CA348180303

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748199C>A (hg19) ; chr2:g.120990623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990623C>A , CM000664.2:g.120990623C>A	GRCh38
NC_000002.11:g.121748199C>A , CM000664.1:g.121748199C>A	GRCh37
NC_000002.10:g.121464669C>A	NCBI36
NG_009030.1:g.198333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4658C>A MANE Select	ENSP00000354586.5:p.Ser1553Tyr
ENST00000452319.6:c.4709C>A	ENSP00000390436.1:p.Ser1570Tyr
ENST00000341310.10:c.*3757C>A	ENSP00000344473.6:n.*3757C>A
ENST00000361492.8:c.4709C>A	ENSP00000354586.4:p.Ser1570Tyr
ENST00000438299.5:c.*2577C>A	ENSP00000400593.1:n.*2577C>A
ENST00000445186.5:c.*3808C>A	ENSP00000397488.1:n.*3808C>A
ENST00000452319.5:c.4709C>A	ENSP00000390436.1:p.Ser1570Tyr
ENST00000452692.5:c.*2526C>A	ENSP00000403715.1:n.*2526C>A
NM_005270.4:c.4709C>A	NP_005261.2:p.Ser1570Tyr
XM_006712422.1:c.4658C>A	XP_006712485.1:p.Ser1553Tyr
XM_011510969.1:c.4691C>A	XP_011509271.1:p.Ser1564Tyr
XM_011510970.1:c.4568C>A	XP_011509272.1:p.Ser1523Tyr
XM_011510971.1:c.4514C>A	XP_011509273.1:p.Ser1505Tyr
XM_011510972.1:c.4514C>A	XP_011509274.1:p.Ser1505Tyr
XM_011510973.1:c.4334C>A	XP_011509275.1:p.Ser1445Tyr
XM_011510974.1:c.4283C>A	XP_011509276.1:p.Ser1428Tyr
XM_006712422.3:c.4658C>A	XP_006712485.1:p.Ser1553Tyr
XM_011510969.2:c.4961C>A	XP_011509271.2:p.Ser1654Tyr
XM_011510970.2:c.4568C>A	XP_011509272.1:p.Ser1523Tyr
XM_011510971.2:c.4514C>A	XP_011509273.1:p.Ser1505Tyr
XM_011510972.2:c.4610C>A	XP_011509274.2:p.Ser1537Tyr
XM_011510973.2:c.4334C>A	XP_011509275.1:p.Ser1445Tyr
XM_011510974.2:c.4283C>A	XP_011509276.1:p.Ser1428Tyr
XM_017003818.1:c.4910C>A	XP_016859307.1:p.Ser1637Tyr
XM_024452794.1:c.4709C>A	XP_024308562.1:p.Ser1570Tyr
XM_024452795.1:c.4709C>A	XP_024308563.1:p.Ser1570Tyr
NM_001371271.1:c.4709C>A	NP_001358200.1:p.Ser1570Tyr
NM_001374353.1:c.4658C>A MANE Select	NP_001361282.1:p.Ser1553Tyr
NM_001374354.1:c.4283C>A	NP_001361283.1:p.Ser1428Tyr
NM_005270.5:c.4709C>A	NP_005261.2:p.Ser1570Tyr