Canonical Allele Identifier: CA348171249

Gene: GLI2

Linked Data

• dbSNP Id: rs546947063
• gnomAD v2: 2-121746608-G-T
• gnomAD v4: 2-120989032-G-T
• MyVariant Identifiers: chr2:g.121746608G>T (hg19) ; chr2:g.120989032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989032G>T , CM000664.2:g.120989032G>T	GRCh38
NC_000002.11:g.121746608G>T , CM000664.1:g.121746608G>T	GRCh37
NC_000002.10:g.121463078G>T	NCBI36
NG_009030.1:g.196742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3067G>T MANE Select	ENSP00000354586.5:p.Val1023Leu
ENST00000452319.6:c.3118G>T	ENSP00000390436.1:p.Val1040Leu
ENST00000341310.10:c.*2166G>T	ENSP00000344473.6:n.*2166G>T
ENST00000361492.8:c.3118G>T	ENSP00000354586.4:p.Val1040Leu
ENST00000438299.5:c.*2217G>T	ENSP00000400593.1:n.*2217G>T
ENST00000445186.5:c.*2217G>T	ENSP00000397488.1:n.*2217G>T
ENST00000452319.5:c.3118G>T	ENSP00000390436.1:p.Val1040Leu
ENST00000452692.5:c.*2166G>T	ENSP00000403715.1:n.*2166G>T
NM_005270.4:c.3118G>T	NP_005261.2:p.Val1040Leu
XM_006712422.1:c.3067G>T	XP_006712485.1:p.Val1023Leu
XM_011510969.1:c.3100G>T	XP_011509271.1:p.Val1034Leu
XM_011510970.1:c.2977G>T	XP_011509272.1:p.Val993Leu
XM_011510971.1:c.2923G>T	XP_011509273.1:p.Val975Leu
XM_011510972.1:c.2923G>T	XP_011509274.1:p.Val975Leu
XM_011510973.1:c.2743G>T	XP_011509275.1:p.Val915Leu
XM_011510974.1:c.2692G>T	XP_011509276.1:p.Val898Leu
XM_006712422.3:c.3067G>T	XP_006712485.1:p.Val1023Leu
XM_011510969.2:c.3370G>T	XP_011509271.2:p.Val1124Leu
XM_011510970.2:c.2977G>T	XP_011509272.1:p.Val993Leu
XM_011510971.2:c.2923G>T	XP_011509273.1:p.Val975Leu
XM_011510972.2:c.3019G>T	XP_011509274.2:p.Val1007Leu
XM_011510973.2:c.2743G>T	XP_011509275.1:p.Val915Leu
XM_011510974.2:c.2692G>T	XP_011509276.1:p.Val898Leu
XM_017003818.1:c.3319G>T	XP_016859307.1:p.Val1107Leu
XM_024452794.1:c.3118G>T	XP_024308562.1:p.Val1040Leu
XM_024452795.1:c.3118G>T	XP_024308563.1:p.Val1040Leu
NM_001371271.1:c.3118G>T	NP_001358200.1:p.Val1040Leu
NM_001374353.1:c.3067G>T MANE Select	NP_001361282.1:p.Val1023Leu
NM_001374354.1:c.2692G>T	NP_001361283.1:p.Val898Leu
NM_005270.5:c.3118G>T	NP_005261.2:p.Val1040Leu