Canonical Allele Identifier: CA1851918

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2188170
• ClinVar RCV Id: RCV002616330 ; RCV002623720 ; RCV003130849
• dbSNP Id: rs764718032
• ExAC: 2:121736158 C / T
• gnomAD v2: 2-121736158-C-T
• gnomAD v3: 2-120978582-C-T
• gnomAD v4: 2-120978582-C-T
• MyVariant Identifiers: chr2:g.121736158C>T (hg19) ; chr2:g.120978582C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1466C>T MANE Select	ENSP00000354586.5:p.Thr489Met
ENST00000452319.6:c.1517C>T	ENSP00000390436.1:p.Thr506Met
ENST00000314490.15:c.530C>T	ENSP00000312694.12:p.Thr177Met
ENST00000341310.10:c.*565C>T	ENSP00000344473.6:n.*565C>T
ENST00000361492.8:c.1517C>T	ENSP00000354586.4:p.Thr506Met
ENST00000435313.6:n.1491C>T
ENST00000437950.5:c.*616C>T	ENSP00000415773.1:n.*616C>T
ENST00000438299.5:c.*616C>T	ENSP00000400593.1:n.*616C>T
ENST00000445186.5:c.*616C>T	ENSP00000397488.1:n.*616C>T
ENST00000452319.5:c.1517C>T	ENSP00000390436.1:p.Thr506Met
ENST00000452692.5:c.*565C>T	ENSP00000403715.1:n.*565C>T
NM_005270.4:c.1517C>T	NP_005261.2:p.Thr506Met
XM_006712422.1:c.1466C>T	XP_006712485.1:p.Thr489Met
XM_011510969.1:c.1499C>T	XP_011509271.1:p.Thr500Met
XM_011510970.1:c.1376C>T	XP_011509272.1:p.Thr459Met
XM_011510971.1:c.1322C>T	XP_011509273.1:p.Thr441Met
XM_011510972.1:c.1322C>T	XP_011509274.1:p.Thr441Met
XM_011510973.1:c.1142C>T	XP_011509275.1:p.Thr381Met
XM_011510974.1:c.1091C>T	XP_011509276.1:p.Thr364Met
XM_006712422.3:c.1466C>T	XP_006712485.1:p.Thr489Met
XM_011510969.2:c.1769C>T	XP_011509271.2:p.Thr590Met
XM_011510970.2:c.1376C>T	XP_011509272.1:p.Thr459Met
XM_011510971.2:c.1322C>T	XP_011509273.1:p.Thr441Met
XM_011510972.2:c.1418C>T	XP_011509274.2:p.Thr473Met
XM_011510973.2:c.1142C>T	XP_011509275.1:p.Thr381Met
XM_011510974.2:c.1091C>T	XP_011509276.1:p.Thr364Met
XM_017003818.1:c.1718C>T	XP_016859307.1:p.Thr573Met
XM_024452794.1:c.1517C>T	XP_024308562.1:p.Thr506Met
XM_024452795.1:c.1517C>T	XP_024308563.1:p.Thr506Met
NM_001371271.1:c.1517C>T	NP_001358200.1:p.Thr506Met
NM_001374353.1:c.1466C>T MANE Select	NP_001361282.1:p.Thr489Met
NM_001374354.1:c.1091C>T	NP_001361283.1:p.Thr364Met
NM_005270.5:c.1517C>T	NP_005261.2:p.Thr506Met