Canonical Allele Identifier: CA428750711

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748089C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990513C>A , CM000664.2:g.120990513C>A	GRCh38
NC_000002.11:g.121748089C>A , CM000664.1:g.121748089C>A	GRCh37
NC_000002.10:g.121464559C>A	NCBI36
NG_009030.1:g.198223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4548C>A MANE Select	ENSP00000354586.5:p.Leu1516=
ENST00000452319.6:c.4599C>A	ENSP00000390436.1:p.Leu1533=
ENST00000341310.10:c.*3647C>A	ENSP00000344473.6:n.*3647C>A
ENST00000361492.8:c.4599C>A	ENSP00000354586.4:p.Leu1533=
ENST00000438299.5:c.*2544-77C>A	ENSP00000400593.1:n.*2544-77C>A
ENST00000445186.5:c.*3698C>A	ENSP00000397488.1:n.*3698C>A
ENST00000452319.5:c.4599C>A	ENSP00000390436.1:p.Leu1533=
ENST00000452692.5:c.*2493-77C>A	ENSP00000403715.1:n.*2493-77C>A
NM_005270.4:c.4599C>A	NP_005261.2:p.Leu1533=
XM_006712422.1:c.4548C>A	XP_006712485.1:p.Leu1516=
XM_011510969.1:c.4581C>A	XP_011509271.1:p.Leu1527=
XM_011510970.1:c.4458C>A	XP_011509272.1:p.Leu1486=
XM_011510971.1:c.4404C>A	XP_011509273.1:p.Leu1468=
XM_011510972.1:c.4404C>A	XP_011509274.1:p.Leu1468=
XM_011510973.1:c.4224C>A	XP_011509275.1:p.Leu1408=
XM_011510974.1:c.4173C>A	XP_011509276.1:p.Leu1391=
XM_006712422.3:c.4548C>A	XP_006712485.1:p.Leu1516=
XM_011510969.2:c.4851C>A	XP_011509271.2:p.Leu1617=
XM_011510970.2:c.4458C>A	XP_011509272.1:p.Leu1486=
XM_011510971.2:c.4404C>A	XP_011509273.1:p.Leu1468=
XM_011510972.2:c.4500C>A	XP_011509274.2:p.Leu1500=
XM_011510973.2:c.4224C>A	XP_011509275.1:p.Leu1408=
XM_011510974.2:c.4173C>A	XP_011509276.1:p.Leu1391=
XM_017003818.1:c.4800C>A	XP_016859307.1:p.Leu1600=
XM_024452794.1:c.4599C>A	XP_024308562.1:p.Leu1533=
XM_024452795.1:c.4599C>A	XP_024308563.1:p.Leu1533=
NM_001371271.1:c.4599C>A	NP_001358200.1:p.Leu1533=
NM_001374353.1:c.4548C>A MANE Select	NP_001361282.1:p.Leu1516=
NM_001374354.1:c.4173C>A	NP_001361283.1:p.Leu1391=
NM_005270.5:c.4599C>A	NP_005261.2:p.Leu1533=