Canonical Allele Identifier: CA348161634

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736130C>A (hg19) ; chr2:g.120978554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978554C>A , CM000664.2:g.120978554C>A	GRCh38
NC_000002.11:g.121736130C>A , CM000664.1:g.121736130C>A	GRCh37
NC_000002.10:g.121452600C>A	NCBI36
NG_009030.1:g.186264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1438C>A MANE Select	ENSP00000354586.5:p.His480Asn
ENST00000452319.6:c.1489C>A	ENSP00000390436.1:p.His497Asn
ENST00000314490.15:c.502C>A	ENSP00000312694.12:p.His168Asn
ENST00000341310.10:c.*537C>A	ENSP00000344473.6:n.*537C>A
ENST00000361492.8:c.1489C>A	ENSP00000354586.4:p.His497Asn
ENST00000435313.6:n.1463C>A
ENST00000437950.5:c.*588C>A	ENSP00000415773.1:n.*588C>A
ENST00000438299.5:c.*588C>A	ENSP00000400593.1:n.*588C>A
ENST00000445186.5:c.*588C>A	ENSP00000397488.1:n.*588C>A
ENST00000452319.5:c.1489C>A	ENSP00000390436.1:p.His497Asn
ENST00000452692.5:c.*537C>A	ENSP00000403715.1:n.*537C>A
NM_005270.4:c.1489C>A	NP_005261.2:p.His497Asn
XM_006712422.1:c.1438C>A	XP_006712485.1:p.His480Asn
XM_011510969.1:c.1471C>A	XP_011509271.1:p.His491Asn
XM_011510970.1:c.1348C>A	XP_011509272.1:p.His450Asn
XM_011510971.1:c.1294C>A	XP_011509273.1:p.His432Asn
XM_011510972.1:c.1294C>A	XP_011509274.1:p.His432Asn
XM_011510973.1:c.1114C>A	XP_011509275.1:p.His372Asn
XM_011510974.1:c.1063C>A	XP_011509276.1:p.His355Asn
XM_006712422.3:c.1438C>A	XP_006712485.1:p.His480Asn
XM_011510969.2:c.1741C>A	XP_011509271.2:p.His581Asn
XM_011510970.2:c.1348C>A	XP_011509272.1:p.His450Asn
XM_011510971.2:c.1294C>A	XP_011509273.1:p.His432Asn
XM_011510972.2:c.1390C>A	XP_011509274.2:p.His464Asn
XM_011510973.2:c.1114C>A	XP_011509275.1:p.His372Asn
XM_011510974.2:c.1063C>A	XP_011509276.1:p.His355Asn
XM_017003818.1:c.1690C>A	XP_016859307.1:p.His564Asn
XM_024452794.1:c.1489C>A	XP_024308562.1:p.His497Asn
XM_024452795.1:c.1489C>A	XP_024308563.1:p.His497Asn
NM_001371271.1:c.1489C>A	NP_001358200.1:p.His497Asn
NM_001374353.1:c.1438C>A MANE Select	NP_001361282.1:p.His480Asn
NM_001374354.1:c.1063C>A	NP_001361283.1:p.His355Asn
NM_005270.5:c.1489C>A	NP_005261.2:p.His497Asn