Canonical Allele Identifier: CA348161612

Gene: GLI2

Linked Data

• ClinVar Variation Id: 3068372
• ClinVar RCV Id: RCV003992047
• MyVariant Identifiers: chr2:g.121736119A>G (hg19) ; chr2:g.120978543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978543A>G , CM000664.2:g.120978543A>G	GRCh38
NC_000002.11:g.121736119A>G , CM000664.1:g.121736119A>G	GRCh37
NC_000002.10:g.121452589A>G	NCBI36
NG_009030.1:g.186253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1427A>G MANE Select	ENSP00000354586.5:p.His476Arg
ENST00000452319.6:c.1478A>G	ENSP00000390436.1:p.His493Arg
ENST00000314490.15:c.491A>G	ENSP00000312694.12:p.His164Arg
ENST00000341310.10:c.*526A>G	ENSP00000344473.6:n.*526A>G
ENST00000361492.8:c.1478A>G	ENSP00000354586.4:p.His493Arg
ENST00000435313.6:n.1452A>G
ENST00000437950.5:c.*577A>G	ENSP00000415773.1:n.*577A>G
ENST00000438299.5:c.*577A>G	ENSP00000400593.1:n.*577A>G
ENST00000445186.5:c.*577A>G	ENSP00000397488.1:n.*577A>G
ENST00000452319.5:c.1478A>G	ENSP00000390436.1:p.His493Arg
ENST00000452692.5:c.*526A>G	ENSP00000403715.1:n.*526A>G
NM_005270.4:c.1478A>G	NP_005261.2:p.His493Arg
XM_006712422.1:c.1427A>G	XP_006712485.1:p.His476Arg
XM_011510969.1:c.1460A>G	XP_011509271.1:p.His487Arg
XM_011510970.1:c.1337A>G	XP_011509272.1:p.His446Arg
XM_011510971.1:c.1283A>G	XP_011509273.1:p.His428Arg
XM_011510972.1:c.1283A>G	XP_011509274.1:p.His428Arg
XM_011510973.1:c.1103A>G	XP_011509275.1:p.His368Arg
XM_011510974.1:c.1052A>G	XP_011509276.1:p.His351Arg
XM_006712422.3:c.1427A>G	XP_006712485.1:p.His476Arg
XM_011510969.2:c.1730A>G	XP_011509271.2:p.His577Arg
XM_011510970.2:c.1337A>G	XP_011509272.1:p.His446Arg
XM_011510971.2:c.1283A>G	XP_011509273.1:p.His428Arg
XM_011510972.2:c.1379A>G	XP_011509274.2:p.His460Arg
XM_011510973.2:c.1103A>G	XP_011509275.1:p.His368Arg
XM_011510974.2:c.1052A>G	XP_011509276.1:p.His351Arg
XM_017003818.1:c.1679A>G	XP_016859307.1:p.His560Arg
XM_024452794.1:c.1478A>G	XP_024308562.1:p.His493Arg
XM_024452795.1:c.1478A>G	XP_024308563.1:p.His493Arg
NM_001371271.1:c.1478A>G	NP_001358200.1:p.His493Arg
NM_001374353.1:c.1427A>G MANE Select	NP_001361282.1:p.His476Arg
NM_001374354.1:c.1052A>G	NP_001361283.1:p.His351Arg
NM_005270.5:c.1478A>G	NP_005261.2:p.His493Arg