Canonical Allele Identifier: CA348161700

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736158C>G (hg19) ; chr2:g.120978582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978582C>G , CM000664.2:g.120978582C>G	GRCh38
NC_000002.11:g.121736158C>G , CM000664.1:g.121736158C>G	GRCh37
NC_000002.10:g.121452628C>G	NCBI36
NG_009030.1:g.186292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1466C>G MANE Select	ENSP00000354586.5:p.Thr489Arg
ENST00000452319.6:c.1517C>G	ENSP00000390436.1:p.Thr506Arg
ENST00000314490.15:c.530C>G	ENSP00000312694.12:p.Thr177Arg
ENST00000341310.10:c.*565C>G	ENSP00000344473.6:n.*565C>G
ENST00000361492.8:c.1517C>G	ENSP00000354586.4:p.Thr506Arg
ENST00000435313.6:n.1491C>G
ENST00000437950.5:c.*616C>G	ENSP00000415773.1:n.*616C>G
ENST00000438299.5:c.*616C>G	ENSP00000400593.1:n.*616C>G
ENST00000445186.5:c.*616C>G	ENSP00000397488.1:n.*616C>G
ENST00000452319.5:c.1517C>G	ENSP00000390436.1:p.Thr506Arg
ENST00000452692.5:c.*565C>G	ENSP00000403715.1:n.*565C>G
NM_005270.4:c.1517C>G	NP_005261.2:p.Thr506Arg
XM_006712422.1:c.1466C>G	XP_006712485.1:p.Thr489Arg
XM_011510969.1:c.1499C>G	XP_011509271.1:p.Thr500Arg
XM_011510970.1:c.1376C>G	XP_011509272.1:p.Thr459Arg
XM_011510971.1:c.1322C>G	XP_011509273.1:p.Thr441Arg
XM_011510972.1:c.1322C>G	XP_011509274.1:p.Thr441Arg
XM_011510973.1:c.1142C>G	XP_011509275.1:p.Thr381Arg
XM_011510974.1:c.1091C>G	XP_011509276.1:p.Thr364Arg
XM_006712422.3:c.1466C>G	XP_006712485.1:p.Thr489Arg
XM_011510969.2:c.1769C>G	XP_011509271.2:p.Thr590Arg
XM_011510970.2:c.1376C>G	XP_011509272.1:p.Thr459Arg
XM_011510971.2:c.1322C>G	XP_011509273.1:p.Thr441Arg
XM_011510972.2:c.1418C>G	XP_011509274.2:p.Thr473Arg
XM_011510973.2:c.1142C>G	XP_011509275.1:p.Thr381Arg
XM_011510974.2:c.1091C>G	XP_011509276.1:p.Thr364Arg
XM_017003818.1:c.1718C>G	XP_016859307.1:p.Thr573Arg
XM_024452794.1:c.1517C>G	XP_024308562.1:p.Thr506Arg
XM_024452795.1:c.1517C>G	XP_024308563.1:p.Thr506Arg
NM_001371271.1:c.1517C>G	NP_001358200.1:p.Thr506Arg
NM_001374353.1:c.1466C>G MANE Select	NP_001361282.1:p.Thr489Arg
NM_001374354.1:c.1091C>G	NP_001361283.1:p.Thr364Arg
NM_005270.5:c.1517C>G	NP_005261.2:p.Thr506Arg