Canonical Allele Identifier: CA348161672

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736146C>G (hg19) ; chr2:g.120978570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978570C>G , CM000664.2:g.120978570C>G	GRCh38
NC_000002.11:g.121736146C>G , CM000664.1:g.121736146C>G	GRCh37
NC_000002.10:g.121452616C>G	NCBI36
NG_009030.1:g.186280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1454C>G MANE Select	ENSP00000354586.5:p.Pro485Arg
ENST00000452319.6:c.1505C>G	ENSP00000390436.1:p.Pro502Arg
ENST00000314490.15:c.518C>G	ENSP00000312694.12:p.Pro173Arg
ENST00000341310.10:c.*553C>G	ENSP00000344473.6:n.*553C>G
ENST00000361492.8:c.1505C>G	ENSP00000354586.4:p.Pro502Arg
ENST00000435313.6:n.1479C>G
ENST00000437950.5:c.*604C>G	ENSP00000415773.1:n.*604C>G
ENST00000438299.5:c.*604C>G	ENSP00000400593.1:n.*604C>G
ENST00000445186.5:c.*604C>G	ENSP00000397488.1:n.*604C>G
ENST00000452319.5:c.1505C>G	ENSP00000390436.1:p.Pro502Arg
ENST00000452692.5:c.*553C>G	ENSP00000403715.1:n.*553C>G
NM_005270.4:c.1505C>G	NP_005261.2:p.Pro502Arg
XM_006712422.1:c.1454C>G	XP_006712485.1:p.Pro485Arg
XM_011510969.1:c.1487C>G	XP_011509271.1:p.Pro496Arg
XM_011510970.1:c.1364C>G	XP_011509272.1:p.Pro455Arg
XM_011510971.1:c.1310C>G	XP_011509273.1:p.Pro437Arg
XM_011510972.1:c.1310C>G	XP_011509274.1:p.Pro437Arg
XM_011510973.1:c.1130C>G	XP_011509275.1:p.Pro377Arg
XM_011510974.1:c.1079C>G	XP_011509276.1:p.Pro360Arg
XM_006712422.3:c.1454C>G	XP_006712485.1:p.Pro485Arg
XM_011510969.2:c.1757C>G	XP_011509271.2:p.Pro586Arg
XM_011510970.2:c.1364C>G	XP_011509272.1:p.Pro455Arg
XM_011510971.2:c.1310C>G	XP_011509273.1:p.Pro437Arg
XM_011510972.2:c.1406C>G	XP_011509274.2:p.Pro469Arg
XM_011510973.2:c.1130C>G	XP_011509275.1:p.Pro377Arg
XM_011510974.2:c.1079C>G	XP_011509276.1:p.Pro360Arg
XM_017003818.1:c.1706C>G	XP_016859307.1:p.Pro569Arg
XM_024452794.1:c.1505C>G	XP_024308562.1:p.Pro502Arg
XM_024452795.1:c.1505C>G	XP_024308563.1:p.Pro502Arg
NM_001371271.1:c.1505C>G	NP_001358200.1:p.Pro502Arg
NM_001374353.1:c.1454C>G MANE Select	NP_001361282.1:p.Pro485Arg
NM_001374354.1:c.1079C>G	NP_001361283.1:p.Pro360Arg
NM_005270.5:c.1505C>G	NP_005261.2:p.Pro502Arg