Canonical Allele Identifier: CA348161490

Gene: GLI2

Linked Data

• dbSNP Id: rs2105050724
• MyVariant Identifiers: chr2:g.121736064C>A (hg19) ; chr2:g.120978488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978488C>A , CM000664.2:g.120978488C>A	GRCh38
NC_000002.11:g.121736064C>A , CM000664.1:g.121736064C>A	GRCh37
NC_000002.10:g.121452534C>A	NCBI36
NG_009030.1:g.186198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1372C>A MANE Select	ENSP00000354586.5:p.Gln458Lys
ENST00000452319.6:c.1423C>A	ENSP00000390436.1:p.Gln475Lys
ENST00000314490.15:c.436C>A	ENSP00000312694.12:p.Gln146Lys
ENST00000341310.10:c.*471C>A	ENSP00000344473.6:n.*471C>A
ENST00000361492.8:c.1423C>A	ENSP00000354586.4:p.Gln475Lys
ENST00000435313.6:n.1397C>A
ENST00000437950.5:c.*522C>A	ENSP00000415773.1:n.*522C>A
ENST00000438299.5:c.*522C>A	ENSP00000400593.1:n.*522C>A
ENST00000445186.5:c.*522C>A	ENSP00000397488.1:n.*522C>A
ENST00000452319.5:c.1423C>A	ENSP00000390436.1:p.Gln475Lys
ENST00000452692.5:c.*471C>A	ENSP00000403715.1:n.*471C>A
NM_005270.4:c.1423C>A	NP_005261.2:p.Gln475Lys
XM_006712422.1:c.1372C>A	XP_006712485.1:p.Gln458Lys
XM_011510969.1:c.1405C>A	XP_011509271.1:p.Gln469Lys
XM_011510970.1:c.1282C>A	XP_011509272.1:p.Gln428Lys
XM_011510971.1:c.1228C>A	XP_011509273.1:p.Gln410Lys
XM_011510972.1:c.1228C>A	XP_011509274.1:p.Gln410Lys
XM_011510973.1:c.1048C>A	XP_011509275.1:p.Gln350Lys
XM_011510974.1:c.997C>A	XP_011509276.1:p.Gln333Lys
XM_006712422.3:c.1372C>A	XP_006712485.1:p.Gln458Lys
XM_011510969.2:c.1675C>A	XP_011509271.2:p.Gln559Lys
XM_011510970.2:c.1282C>A	XP_011509272.1:p.Gln428Lys
XM_011510971.2:c.1228C>A	XP_011509273.1:p.Gln410Lys
XM_011510972.2:c.1324C>A	XP_011509274.2:p.Gln442Lys
XM_011510973.2:c.1048C>A	XP_011509275.1:p.Gln350Lys
XM_011510974.2:c.997C>A	XP_011509276.1:p.Gln333Lys
XM_017003818.1:c.1624C>A	XP_016859307.1:p.Gln542Lys
XM_024452794.1:c.1423C>A	XP_024308562.1:p.Gln475Lys
XM_024452795.1:c.1423C>A	XP_024308563.1:p.Gln475Lys
NM_001371271.1:c.1423C>A	NP_001358200.1:p.Gln475Lys
NM_001374353.1:c.1372C>A MANE Select	NP_001361282.1:p.Gln458Lys
NM_001374354.1:c.997C>A	NP_001361283.1:p.Gln333Lys
NM_005270.5:c.1423C>A	NP_005261.2:p.Gln475Lys