Canonical Allele Identifier: CA54383898

Gene: GLI2

Linked Data

• dbSNP Id: rs374225016
• gnomAD v2: 2-121746656-C-T
• gnomAD v3: 2-120989080-C-T
• gnomAD v4: 2-120989080-C-T
• MyVariant Identifiers: chr2:g.121746656C>T (hg19) ; chr2:g.120989080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989080C>T , CM000664.2:g.120989080C>T	GRCh38
NC_000002.11:g.121746656C>T , CM000664.1:g.121746656C>T	GRCh37
NC_000002.10:g.121463126C>T	NCBI36
NG_009030.1:g.196790C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3115C>T MANE Select	ENSP00000354586.5:p.Pro1039Ser
ENST00000452319.6:c.3166C>T	ENSP00000390436.1:p.Pro1056Ser
ENST00000341310.10:c.*2214C>T	ENSP00000344473.6:n.*2214C>T
ENST00000361492.8:c.3166C>T	ENSP00000354586.4:p.Pro1056Ser
ENST00000438299.5:c.*2265C>T	ENSP00000400593.1:n.*2265C>T
ENST00000445186.5:c.*2265C>T	ENSP00000397488.1:n.*2265C>T
ENST00000452319.5:c.3166C>T	ENSP00000390436.1:p.Pro1056Ser
ENST00000452692.5:c.*2214C>T	ENSP00000403715.1:n.*2214C>T
NM_005270.4:c.3166C>T	NP_005261.2:p.Pro1056Ser
XM_006712422.1:c.3115C>T	XP_006712485.1:p.Pro1039Ser
XM_011510969.1:c.3148C>T	XP_011509271.1:p.Pro1050Ser
XM_011510970.1:c.3025C>T	XP_011509272.1:p.Pro1009Ser
XM_011510971.1:c.2971C>T	XP_011509273.1:p.Pro991Ser
XM_011510972.1:c.2971C>T	XP_011509274.1:p.Pro991Ser
XM_011510973.1:c.2791C>T	XP_011509275.1:p.Pro931Ser
XM_011510974.1:c.2740C>T	XP_011509276.1:p.Pro914Ser
XM_006712422.3:c.3115C>T	XP_006712485.1:p.Pro1039Ser
XM_011510969.2:c.3418C>T	XP_011509271.2:p.Pro1140Ser
XM_011510970.2:c.3025C>T	XP_011509272.1:p.Pro1009Ser
XM_011510971.2:c.2971C>T	XP_011509273.1:p.Pro991Ser
XM_011510972.2:c.3067C>T	XP_011509274.2:p.Pro1023Ser
XM_011510973.2:c.2791C>T	XP_011509275.1:p.Pro931Ser
XM_011510974.2:c.2740C>T	XP_011509276.1:p.Pro914Ser
XM_017003818.1:c.3367C>T	XP_016859307.1:p.Pro1123Ser
XM_024452794.1:c.3166C>T	XP_024308562.1:p.Pro1056Ser
XM_024452795.1:c.3166C>T	XP_024308563.1:p.Pro1056Ser
NM_001371271.1:c.3166C>T	NP_001358200.1:p.Pro1056Ser
NM_001374353.1:c.3115C>T MANE Select	NP_001361282.1:p.Pro1039Ser
NM_001374354.1:c.2740C>T	NP_001361283.1:p.Pro914Ser
NM_005270.5:c.3166C>T	NP_005261.2:p.Pro1056Ser