Canonical Allele Identifier: CA1851991

Gene: GLI2

Linked Data

• ClinVar Variation Id: 330971
• ClinVar RCV Id: RCV000354006
• dbSNP Id: rs532360271
• ExAC: 2:121742040 T / A
• gnomAD v2: 2-121742040-T-A
• gnomAD v3: 2-120984464-T-A
• gnomAD v4: 2-120984464-T-A
• MyVariant Identifiers: chr2:g.121742040T>A (hg19) ; chr2:g.120984464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120984464T>A , CM000664.2:g.120984464T>A	GRCh38
NC_000002.11:g.121742040T>A , CM000664.1:g.121742040T>A	GRCh37
NC_000002.10:g.121458510T>A	NCBI36
NG_009030.1:g.192174T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.1633-7T>A MANE Select	ENSP00000354586.5:n.1633-7T>A
ENST00000452319.6:c.1684-7T>A	ENSP00000390436.1:n.1684-7T>A
ENST00000314490.15:c.697-7T>A	ENSP00000312694.12:n.697-7T>A
ENST00000341310.10:c.*732-7T>A	ENSP00000344473.6:n.*732-7T>A
ENST00000361492.8:c.1684-7T>A	ENSP00000354586.4:n.1684-7T>A
ENST00000435313.6:n.1658-7T>A
ENST00000437950.5:c.*783-7T>A	ENSP00000415773.1:n.*783-7T>A
ENST00000438299.5:c.*783-7T>A	ENSP00000400593.1:n.*783-7T>A
ENST00000445186.5:c.*783-7T>A	ENSP00000397488.1:n.*783-7T>A
ENST00000452319.5:c.1684-7T>A	ENSP00000390436.1:n.1684-7T>A
ENST00000452692.5:c.*732-7T>A	ENSP00000403715.1:n.*732-7T>A
NM_005270.4:c.1684-7T>A	NP_005261.2:n.1684-7T>A
XM_006712422.1:c.1633-7T>A	XP_006712485.1:n.1633-7T>A
XM_011510969.1:c.1666-7T>A	XP_011509271.1:n.1666-7T>A
XM_011510970.1:c.1543-7T>A	XP_011509272.1:n.1543-7T>A
XM_011510971.1:c.1489-7T>A	XP_011509273.1:n.1489-7T>A
XM_011510972.1:c.1489-7T>A	XP_011509274.1:n.1489-7T>A
XM_011510973.1:c.1309-7T>A	XP_011509275.1:n.1309-7T>A
XM_011510974.1:c.1258-7T>A	XP_011509276.1:n.1258-7T>A
XM_006712422.3:c.1633-7T>A	XP_006712485.1:n.1633-7T>A
XM_011510969.2:c.1936-7T>A	XP_011509271.2:n.1936-7T>A
XM_011510970.2:c.1543-7T>A	XP_011509272.1:n.1543-7T>A
XM_011510971.2:c.1489-7T>A	XP_011509273.1:n.1489-7T>A
XM_011510972.2:c.1585-7T>A	XP_011509274.2:n.1585-7T>A
XM_011510973.2:c.1309-7T>A	XP_011509275.1:n.1309-7T>A
XM_011510974.2:c.1258-7T>A	XP_011509276.1:n.1258-7T>A
XM_017003818.1:c.1885-7T>A	XP_016859307.1:n.1885-7T>A
XM_024452794.1:c.1684-7T>A	XP_024308562.1:n.1684-7T>A
XM_024452795.1:c.1684-7T>A	XP_024308563.1:n.1684-7T>A
NM_001371271.1:c.1684-7T>A	NP_001358200.1:n.1684-7T>A
NM_001374353.1:c.1633-7T>A MANE Select	NP_001361282.1:n.1633-7T>A
NM_001374354.1:c.1258-7T>A	NP_001361283.1:n.1258-7T>A
NM_005270.5:c.1684-7T>A	NP_005261.2:n.1684-7T>A