Canonical Allele Identifier: CA428749735

Gene: GLI2

Linked Data

• gnomAD v4: 2-120989031-C-G
• MyVariant Identifiers: chr2:g.121746607C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989031C>G , CM000664.2:g.120989031C>G	GRCh38
NC_000002.11:g.121746607C>G , CM000664.1:g.121746607C>G	GRCh37
NC_000002.10:g.121463077C>G	NCBI36
NG_009030.1:g.196741C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3066C>G MANE Select	ENSP00000354586.5:p.Ala1022=
ENST00000452319.6:c.3117C>G	ENSP00000390436.1:p.Ala1039=
ENST00000341310.10:c.*2165C>G	ENSP00000344473.6:n.*2165C>G
ENST00000361492.8:c.3117C>G	ENSP00000354586.4:p.Ala1039=
ENST00000438299.5:c.*2216C>G	ENSP00000400593.1:n.*2216C>G
ENST00000445186.5:c.*2216C>G	ENSP00000397488.1:n.*2216C>G
ENST00000452319.5:c.3117C>G	ENSP00000390436.1:p.Ala1039=
ENST00000452692.5:c.*2165C>G	ENSP00000403715.1:n.*2165C>G
NM_005270.4:c.3117C>G	NP_005261.2:p.Ala1039=
XM_006712422.1:c.3066C>G	XP_006712485.1:p.Ala1022=
XM_011510969.1:c.3099C>G	XP_011509271.1:p.Ala1033=
XM_011510970.1:c.2976C>G	XP_011509272.1:p.Ala992=
XM_011510971.1:c.2922C>G	XP_011509273.1:p.Ala974=
XM_011510972.1:c.2922C>G	XP_011509274.1:p.Ala974=
XM_011510973.1:c.2742C>G	XP_011509275.1:p.Ala914=
XM_011510974.1:c.2691C>G	XP_011509276.1:p.Ala897=
XM_006712422.3:c.3066C>G	XP_006712485.1:p.Ala1022=
XM_011510969.2:c.3369C>G	XP_011509271.2:p.Ala1123=
XM_011510970.2:c.2976C>G	XP_011509272.1:p.Ala992=
XM_011510971.2:c.2922C>G	XP_011509273.1:p.Ala974=
XM_011510972.2:c.3018C>G	XP_011509274.2:p.Ala1006=
XM_011510973.2:c.2742C>G	XP_011509275.1:p.Ala914=
XM_011510974.2:c.2691C>G	XP_011509276.1:p.Ala897=
XM_017003818.1:c.3318C>G	XP_016859307.1:p.Ala1106=
XM_024452794.1:c.3117C>G	XP_024308562.1:p.Ala1039=
XM_024452795.1:c.3117C>G	XP_024308563.1:p.Ala1039=
NM_001371271.1:c.3117C>G	NP_001358200.1:p.Ala1039=
NM_001374353.1:c.3066C>G MANE Select	NP_001361282.1:p.Ala1022=
NM_001374354.1:c.2691C>G	NP_001361283.1:p.Ala897=
NM_005270.5:c.3117C>G	NP_005261.2:p.Ala1039=