Canonical Allele Identifier: CA348172502

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2507246
• ClinVar RCV Id: RCV003239137
• dbSNP Id: rs761549286
• gnomAD v2: 2-121746657-C-G
• gnomAD v4: 2-120989081-C-G
• MyVariant Identifiers: chr2:g.121746657C>G (hg19) ; chr2:g.120989081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989081C>G , CM000664.2:g.120989081C>G	GRCh38
NC_000002.11:g.121746657C>G , CM000664.1:g.121746657C>G	GRCh37
NC_000002.10:g.121463127C>G	NCBI36
NG_009030.1:g.196791C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3116C>G MANE Select	ENSP00000354586.5:p.Pro1039Arg
ENST00000452319.6:c.3167C>G	ENSP00000390436.1:p.Pro1056Arg
ENST00000341310.10:c.*2215C>G	ENSP00000344473.6:n.*2215C>G
ENST00000361492.8:c.3167C>G	ENSP00000354586.4:p.Pro1056Arg
ENST00000438299.5:c.*2266C>G	ENSP00000400593.1:n.*2266C>G
ENST00000445186.5:c.*2266C>G	ENSP00000397488.1:n.*2266C>G
ENST00000452319.5:c.3167C>G	ENSP00000390436.1:p.Pro1056Arg
ENST00000452692.5:c.*2215C>G	ENSP00000403715.1:n.*2215C>G
NM_005270.4:c.3167C>G	NP_005261.2:p.Pro1056Arg
XM_006712422.1:c.3116C>G	XP_006712485.1:p.Pro1039Arg
XM_011510969.1:c.3149C>G	XP_011509271.1:p.Pro1050Arg
XM_011510970.1:c.3026C>G	XP_011509272.1:p.Pro1009Arg
XM_011510971.1:c.2972C>G	XP_011509273.1:p.Pro991Arg
XM_011510972.1:c.2972C>G	XP_011509274.1:p.Pro991Arg
XM_011510973.1:c.2792C>G	XP_011509275.1:p.Pro931Arg
XM_011510974.1:c.2741C>G	XP_011509276.1:p.Pro914Arg
XM_006712422.3:c.3116C>G	XP_006712485.1:p.Pro1039Arg
XM_011510969.2:c.3419C>G	XP_011509271.2:p.Pro1140Arg
XM_011510970.2:c.3026C>G	XP_011509272.1:p.Pro1009Arg
XM_011510971.2:c.2972C>G	XP_011509273.1:p.Pro991Arg
XM_011510972.2:c.3068C>G	XP_011509274.2:p.Pro1023Arg
XM_011510973.2:c.2792C>G	XP_011509275.1:p.Pro931Arg
XM_011510974.2:c.2741C>G	XP_011509276.1:p.Pro914Arg
XM_017003818.1:c.3368C>G	XP_016859307.1:p.Pro1123Arg
XM_024452794.1:c.3167C>G	XP_024308562.1:p.Pro1056Arg
XM_024452795.1:c.3167C>G	XP_024308563.1:p.Pro1056Arg
NM_001371271.1:c.3167C>G	NP_001358200.1:p.Pro1056Arg
NM_001374353.1:c.3116C>G MANE Select	NP_001361282.1:p.Pro1039Arg
NM_001374354.1:c.2741C>G	NP_001361283.1:p.Pro914Arg
NM_005270.5:c.3167C>G	NP_005261.2:p.Pro1056Arg