Canonical Allele Identifier: CA348180043

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748073C>A (hg19) ; chr2:g.120990497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990497C>A , CM000664.2:g.120990497C>A	GRCh38
NC_000002.11:g.121748073C>A , CM000664.1:g.121748073C>A	GRCh37
NC_000002.10:g.121464543C>A	NCBI36
NG_009030.1:g.198207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4532C>A MANE Select	ENSP00000354586.5:p.Ala1511Asp
ENST00000452319.6:c.4583C>A	ENSP00000390436.1:p.Ala1528Asp
ENST00000341310.10:c.*3631C>A	ENSP00000344473.6:n.*3631C>A
ENST00000361492.8:c.4583C>A	ENSP00000354586.4:p.Ala1528Asp
ENST00000438299.5:c.*2544-93C>A	ENSP00000400593.1:n.*2544-93C>A
ENST00000445186.5:c.*3682C>A	ENSP00000397488.1:n.*3682C>A
ENST00000452319.5:c.4583C>A	ENSP00000390436.1:p.Ala1528Asp
ENST00000452692.5:c.*2493-93C>A	ENSP00000403715.1:n.*2493-93C>A
NM_005270.4:c.4583C>A	NP_005261.2:p.Ala1528Asp
XM_006712422.1:c.4532C>A	XP_006712485.1:p.Ala1511Asp
XM_011510969.1:c.4565C>A	XP_011509271.1:p.Ala1522Asp
XM_011510970.1:c.4442C>A	XP_011509272.1:p.Ala1481Asp
XM_011510971.1:c.4388C>A	XP_011509273.1:p.Ala1463Asp
XM_011510972.1:c.4388C>A	XP_011509274.1:p.Ala1463Asp
XM_011510973.1:c.4208C>A	XP_011509275.1:p.Ala1403Asp
XM_011510974.1:c.4157C>A	XP_011509276.1:p.Ala1386Asp
XM_006712422.3:c.4532C>A	XP_006712485.1:p.Ala1511Asp
XM_011510969.2:c.4835C>A	XP_011509271.2:p.Ala1612Asp
XM_011510970.2:c.4442C>A	XP_011509272.1:p.Ala1481Asp
XM_011510971.2:c.4388C>A	XP_011509273.1:p.Ala1463Asp
XM_011510972.2:c.4484C>A	XP_011509274.2:p.Ala1495Asp
XM_011510973.2:c.4208C>A	XP_011509275.1:p.Ala1403Asp
XM_011510974.2:c.4157C>A	XP_011509276.1:p.Ala1386Asp
XM_017003818.1:c.4784C>A	XP_016859307.1:p.Ala1595Asp
XM_024452794.1:c.4583C>A	XP_024308562.1:p.Ala1528Asp
XM_024452795.1:c.4583C>A	XP_024308563.1:p.Ala1528Asp
NM_001371271.1:c.4583C>A	NP_001358200.1:p.Ala1528Asp
NM_001374353.1:c.4532C>A MANE Select	NP_001361282.1:p.Ala1511Asp
NM_001374354.1:c.4157C>A	NP_001361283.1:p.Ala1386Asp
NM_005270.5:c.4583C>A	NP_005261.2:p.Ala1528Asp