Canonical Allele Identifier: CA1852298

Gene: GLI2

Linked Data

• ClinVar Variation Id: 772427
• ClinVar RCV Id: RCV000951982
• dbSNP Id: rs770186740
• ExAC: 2:121746550 C / T
• gnomAD v2: 2-121746550-C-T
• gnomAD v3: 2-120988974-C-T
• gnomAD v4: 2-120988974-C-T
• MyVariant Identifiers: chr2:g.121746550C>T (hg19) ; chr2:g.120988974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988974C>T , CM000664.2:g.120988974C>T	GRCh38
NC_000002.11:g.121746550C>T , CM000664.1:g.121746550C>T	GRCh37
NC_000002.10:g.121463020C>T	NCBI36
NG_009030.1:g.196684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3009C>T MANE Select	ENSP00000354586.5:p.Ala1003=
ENST00000452319.6:c.3060C>T	ENSP00000390436.1:p.Ala1020=
ENST00000341310.10:c.*2108C>T	ENSP00000344473.6:n.*2108C>T
ENST00000361492.8:c.3060C>T	ENSP00000354586.4:p.Ala1020=
ENST00000438299.5:c.*2159C>T	ENSP00000400593.1:n.*2159C>T
ENST00000445186.5:c.*2159C>T	ENSP00000397488.1:n.*2159C>T
ENST00000452319.5:c.3060C>T	ENSP00000390436.1:p.Ala1020=
ENST00000452692.5:c.*2108C>T	ENSP00000403715.1:n.*2108C>T
NM_005270.4:c.3060C>T	NP_005261.2:p.Ala1020=
XM_006712422.1:c.3009C>T	XP_006712485.1:p.Ala1003=
XM_011510969.1:c.3042C>T	XP_011509271.1:p.Ala1014=
XM_011510970.1:c.2919C>T	XP_011509272.1:p.Ala973=
XM_011510971.1:c.2865C>T	XP_011509273.1:p.Ala955=
XM_011510972.1:c.2865C>T	XP_011509274.1:p.Ala955=
XM_011510973.1:c.2685C>T	XP_011509275.1:p.Ala895=
XM_011510974.1:c.2634C>T	XP_011509276.1:p.Ala878=
XM_006712422.3:c.3009C>T	XP_006712485.1:p.Ala1003=
XM_011510969.2:c.3312C>T	XP_011509271.2:p.Ala1104=
XM_011510970.2:c.2919C>T	XP_011509272.1:p.Ala973=
XM_011510971.2:c.2865C>T	XP_011509273.1:p.Ala955=
XM_011510972.2:c.2961C>T	XP_011509274.2:p.Ala987=
XM_011510973.2:c.2685C>T	XP_011509275.1:p.Ala895=
XM_011510974.2:c.2634C>T	XP_011509276.1:p.Ala878=
XM_017003818.1:c.3261C>T	XP_016859307.1:p.Ala1087=
XM_024452794.1:c.3060C>T	XP_024308562.1:p.Ala1020=
XM_024452795.1:c.3060C>T	XP_024308563.1:p.Ala1020=
NM_001371271.1:c.3060C>T	NP_001358200.1:p.Ala1020=
NM_001374353.1:c.3009C>T MANE Select	NP_001361282.1:p.Ala1003=
NM_001374354.1:c.2634C>T	NP_001361283.1:p.Ala878=
NM_005270.5:c.3060C>T	NP_005261.2:p.Ala1020=