Canonical Allele Identifier: CA348180252

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990602-T-G
• MyVariant Identifiers: chr2:g.121748178T>G (hg19) ; chr2:g.120990602T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990602T>G , CM000664.2:g.120990602T>G	GRCh38
NC_000002.11:g.121748178T>G , CM000664.1:g.121748178T>G	GRCh37
NC_000002.10:g.121464648T>G	NCBI36
NG_009030.1:g.198312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4637T>G MANE Select	ENSP00000354586.5:p.Met1546Arg
ENST00000452319.6:c.4688T>G	ENSP00000390436.1:p.Met1563Arg
ENST00000341310.10:c.*3736T>G	ENSP00000344473.6:n.*3736T>G
ENST00000361492.8:c.4688T>G	ENSP00000354586.4:p.Met1563Arg
ENST00000438299.5:c.*2556T>G	ENSP00000400593.1:n.*2556T>G
ENST00000445186.5:c.*3787T>G	ENSP00000397488.1:n.*3787T>G
ENST00000452319.5:c.4688T>G	ENSP00000390436.1:p.Met1563Arg
ENST00000452692.5:c.*2505T>G	ENSP00000403715.1:n.*2505T>G
NM_005270.4:c.4688T>G	NP_005261.2:p.Met1563Arg
XM_006712422.1:c.4637T>G	XP_006712485.1:p.Met1546Arg
XM_011510969.1:c.4670T>G	XP_011509271.1:p.Met1557Arg
XM_011510970.1:c.4547T>G	XP_011509272.1:p.Met1516Arg
XM_011510971.1:c.4493T>G	XP_011509273.1:p.Met1498Arg
XM_011510972.1:c.4493T>G	XP_011509274.1:p.Met1498Arg
XM_011510973.1:c.4313T>G	XP_011509275.1:p.Met1438Arg
XM_011510974.1:c.4262T>G	XP_011509276.1:p.Met1421Arg
XM_006712422.3:c.4637T>G	XP_006712485.1:p.Met1546Arg
XM_011510969.2:c.4940T>G	XP_011509271.2:p.Met1647Arg
XM_011510970.2:c.4547T>G	XP_011509272.1:p.Met1516Arg
XM_011510971.2:c.4493T>G	XP_011509273.1:p.Met1498Arg
XM_011510972.2:c.4589T>G	XP_011509274.2:p.Met1530Arg
XM_011510973.2:c.4313T>G	XP_011509275.1:p.Met1438Arg
XM_011510974.2:c.4262T>G	XP_011509276.1:p.Met1421Arg
XM_017003818.1:c.4889T>G	XP_016859307.1:p.Met1630Arg
XM_024452794.1:c.4688T>G	XP_024308562.1:p.Met1563Arg
XM_024452795.1:c.4688T>G	XP_024308563.1:p.Met1563Arg
NM_001371271.1:c.4688T>G	NP_001358200.1:p.Met1563Arg
NM_001374353.1:c.4637T>G MANE Select	NP_001361282.1:p.Met1546Arg
NM_001374354.1:c.4262T>G	NP_001361283.1:p.Met1421Arg
NM_005270.5:c.4688T>G	NP_005261.2:p.Met1563Arg