Canonical Allele Identifier: CA1852350

Gene: GLI2

Linked Data

• dbSNP Id: rs764436534
• ExAC: 2:121746762 C / T
• gnomAD v2: 2-121746762-C-T
• gnomAD v4: 2-120989186-C-T
• MyVariant Identifiers: chr2:g.121746762C>T (hg19) ; chr2:g.120989186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989186C>T , CM000664.2:g.120989186C>T	GRCh38
NC_000002.11:g.121746762C>T , CM000664.1:g.121746762C>T	GRCh37
NC_000002.10:g.121463232C>T	NCBI36
NG_009030.1:g.196896C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3221C>T MANE Select	ENSP00000354586.5:p.Thr1074Ile
ENST00000452319.6:c.3272C>T	ENSP00000390436.1:p.Thr1091Ile
ENST00000341310.10:c.*2320C>T	ENSP00000344473.6:n.*2320C>T
ENST00000361492.8:c.3272C>T	ENSP00000354586.4:p.Thr1091Ile
ENST00000438299.5:c.*2371C>T	ENSP00000400593.1:n.*2371C>T
ENST00000445186.5:c.*2371C>T	ENSP00000397488.1:n.*2371C>T
ENST00000452319.5:c.3272C>T	ENSP00000390436.1:p.Thr1091Ile
ENST00000452692.5:c.*2320C>T	ENSP00000403715.1:n.*2320C>T
NM_005270.4:c.3272C>T	NP_005261.2:p.Thr1091Ile
XM_006712422.1:c.3221C>T	XP_006712485.1:p.Thr1074Ile
XM_011510969.1:c.3254C>T	XP_011509271.1:p.Thr1085Ile
XM_011510970.1:c.3131C>T	XP_011509272.1:p.Thr1044Ile
XM_011510971.1:c.3077C>T	XP_011509273.1:p.Thr1026Ile
XM_011510972.1:c.3077C>T	XP_011509274.1:p.Thr1026Ile
XM_011510973.1:c.2897C>T	XP_011509275.1:p.Thr966Ile
XM_011510974.1:c.2846C>T	XP_011509276.1:p.Thr949Ile
XM_006712422.3:c.3221C>T	XP_006712485.1:p.Thr1074Ile
XM_011510969.2:c.3524C>T	XP_011509271.2:p.Thr1175Ile
XM_011510970.2:c.3131C>T	XP_011509272.1:p.Thr1044Ile
XM_011510971.2:c.3077C>T	XP_011509273.1:p.Thr1026Ile
XM_011510972.2:c.3173C>T	XP_011509274.2:p.Thr1058Ile
XM_011510973.2:c.2897C>T	XP_011509275.1:p.Thr966Ile
XM_011510974.2:c.2846C>T	XP_011509276.1:p.Thr949Ile
XM_017003818.1:c.3473C>T	XP_016859307.1:p.Thr1158Ile
XM_024452794.1:c.3272C>T	XP_024308562.1:p.Thr1091Ile
XM_024452795.1:c.3272C>T	XP_024308563.1:p.Thr1091Ile
NM_001371271.1:c.3272C>T	NP_001358200.1:p.Thr1091Ile
NM_001374353.1:c.3221C>T MANE Select	NP_001361282.1:p.Thr1074Ile
NM_001374354.1:c.2846C>T	NP_001361283.1:p.Thr949Ile
NM_005270.5:c.3272C>T	NP_005261.2:p.Thr1091Ile