Canonical Allele Identifier: CA54386673

Gene: GLI2

Linked Data

• dbSNP Id: rs529216641
• gnomAD v3: 2-120990673-T-C
• gnomAD v4: 2-120990673-T-C
• MyVariant Identifiers: chr2:g.121748249T>C (hg19) ; chr2:g.120990673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990673T>C , CM000664.2:g.120990673T>C	GRCh38
NC_000002.11:g.121748249T>C , CM000664.1:g.121748249T>C	GRCh37
NC_000002.10:g.121464719T>C	NCBI36
NG_009030.1:g.198383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4708T>C MANE Select	ENSP00000354586.5:p.Ter1570Gln
ENST00000452319.6:c.4759T>C	ENSP00000390436.1:p.Ter1587Gln
ENST00000341310.10:c.*3807T>C	ENSP00000344473.6:n.*3807T>C
ENST00000361492.8:c.4759T>C	ENSP00000354586.4:p.Ter1587Gln
ENST00000438299.5:c.*2627T>C	ENSP00000400593.1:n.*2627T>C
ENST00000445186.5:c.*3858T>C	ENSP00000397488.1:n.*3858T>C
ENST00000452319.5:c.4759T>C	ENSP00000390436.1:p.Ter1587Gln
ENST00000452692.5:c.*2576T>C	ENSP00000403715.1:n.*2576T>C
NM_005270.4:c.4759T>C	NP_005261.2:p.Ter1587Gln
XM_006712422.1:c.4708T>C	XP_006712485.1:p.Ter1570Gln
XM_011510969.1:c.4741T>C	XP_011509271.1:p.Ter1581Gln
XM_011510970.1:c.4618T>C	XP_011509272.1:p.Ter1540Gln
XM_011510971.1:c.4564T>C	XP_011509273.1:p.Ter1522Gln
XM_011510972.1:c.4564T>C	XP_011509274.1:p.Ter1522Gln
XM_011510973.1:c.4384T>C	XP_011509275.1:p.Ter1462Gln
XM_011510974.1:c.4333T>C	XP_011509276.1:p.Ter1445Gln
XM_006712422.3:c.4708T>C	XP_006712485.1:p.Ter1570Gln
XM_011510969.2:c.5011T>C	XP_011509271.2:p.Ter1671Gln
XM_011510970.2:c.4618T>C	XP_011509272.1:p.Ter1540Gln
XM_011510971.2:c.4564T>C	XP_011509273.1:p.Ter1522Gln
XM_011510972.2:c.4660T>C	XP_011509274.2:p.Ter1554Gln
XM_011510973.2:c.4384T>C	XP_011509275.1:p.Ter1462Gln
XM_011510974.2:c.4333T>C	XP_011509276.1:p.Ter1445Gln
XM_017003818.1:c.4960T>C	XP_016859307.1:p.Ter1654Gln
XM_024452794.1:c.4759T>C	XP_024308562.1:p.Ter1587Gln
XM_024452795.1:c.4759T>C	XP_024308563.1:p.Ter1587Gln
NM_001371271.1:c.4759T>C	NP_001358200.1:p.Ter1587Gln
NM_001374353.1:c.4708T>C MANE Select	NP_001361282.1:p.Ter1570Gln
NM_001374354.1:c.4333T>C	NP_001361283.1:p.Ter1445Gln
NM_005270.5:c.4759T>C	NP_005261.2:p.Ter1587Gln