Canonical Allele Identifier: CA348180323

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748208C>G (hg19) ; chr2:g.120990632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990632C>G , CM000664.2:g.120990632C>G	GRCh38
NC_000002.11:g.121748208C>G , CM000664.1:g.121748208C>G	GRCh37
NC_000002.10:g.121464678C>G	NCBI36
NG_009030.1:g.198342C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4667C>G MANE Select	ENSP00000354586.5:p.Thr1556Ser
ENST00000452319.6:c.4718C>G	ENSP00000390436.1:p.Thr1573Ser
ENST00000341310.10:c.*3766C>G	ENSP00000344473.6:n.*3766C>G
ENST00000361492.8:c.4718C>G	ENSP00000354586.4:p.Thr1573Ser
ENST00000438299.5:c.*2586C>G	ENSP00000400593.1:n.*2586C>G
ENST00000445186.5:c.*3817C>G	ENSP00000397488.1:n.*3817C>G
ENST00000452319.5:c.4718C>G	ENSP00000390436.1:p.Thr1573Ser
ENST00000452692.5:c.*2535C>G	ENSP00000403715.1:n.*2535C>G
NM_005270.4:c.4718C>G	NP_005261.2:p.Thr1573Ser
XM_006712422.1:c.4667C>G	XP_006712485.1:p.Thr1556Ser
XM_011510969.1:c.4700C>G	XP_011509271.1:p.Thr1567Ser
XM_011510970.1:c.4577C>G	XP_011509272.1:p.Thr1526Ser
XM_011510971.1:c.4523C>G	XP_011509273.1:p.Thr1508Ser
XM_011510972.1:c.4523C>G	XP_011509274.1:p.Thr1508Ser
XM_011510973.1:c.4343C>G	XP_011509275.1:p.Thr1448Ser
XM_011510974.1:c.4292C>G	XP_011509276.1:p.Thr1431Ser
XM_006712422.3:c.4667C>G	XP_006712485.1:p.Thr1556Ser
XM_011510969.2:c.4970C>G	XP_011509271.2:p.Thr1657Ser
XM_011510970.2:c.4577C>G	XP_011509272.1:p.Thr1526Ser
XM_011510971.2:c.4523C>G	XP_011509273.1:p.Thr1508Ser
XM_011510972.2:c.4619C>G	XP_011509274.2:p.Thr1540Ser
XM_011510973.2:c.4343C>G	XP_011509275.1:p.Thr1448Ser
XM_011510974.2:c.4292C>G	XP_011509276.1:p.Thr1431Ser
XM_017003818.1:c.4919C>G	XP_016859307.1:p.Thr1640Ser
XM_024452794.1:c.4718C>G	XP_024308562.1:p.Thr1573Ser
XM_024452795.1:c.4718C>G	XP_024308563.1:p.Thr1573Ser
NM_001371271.1:c.4718C>G	NP_001358200.1:p.Thr1573Ser
NM_001374353.1:c.4667C>G MANE Select	NP_001361282.1:p.Thr1556Ser
NM_001374354.1:c.4292C>G	NP_001361283.1:p.Thr1431Ser
NM_005270.5:c.4718C>G	NP_005261.2:p.Thr1573Ser