Canonical Allele Identifier: CA348170982

Gene: GLI2

Linked Data

• gnomAD v4: 2-120988969-C-A
• MyVariant Identifiers: chr2:g.121746545C>A (hg19) ; chr2:g.120988969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988969C>A , CM000664.2:g.120988969C>A	GRCh38
NC_000002.11:g.121746545C>A , CM000664.1:g.121746545C>A	GRCh37
NC_000002.10:g.121463015C>A	NCBI36
NG_009030.1:g.196679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3004C>A MANE Select	ENSP00000354586.5:p.Leu1002Met
ENST00000452319.6:c.3055C>A	ENSP00000390436.1:p.Leu1019Met
ENST00000341310.10:c.*2103C>A	ENSP00000344473.6:n.*2103C>A
ENST00000361492.8:c.3055C>A	ENSP00000354586.4:p.Leu1019Met
ENST00000438299.5:c.*2154C>A	ENSP00000400593.1:n.*2154C>A
ENST00000445186.5:c.*2154C>A	ENSP00000397488.1:n.*2154C>A
ENST00000452319.5:c.3055C>A	ENSP00000390436.1:p.Leu1019Met
ENST00000452692.5:c.*2103C>A	ENSP00000403715.1:n.*2103C>A
NM_005270.4:c.3055C>A	NP_005261.2:p.Leu1019Met
XM_006712422.1:c.3004C>A	XP_006712485.1:p.Leu1002Met
XM_011510969.1:c.3037C>A	XP_011509271.1:p.Leu1013Met
XM_011510970.1:c.2914C>A	XP_011509272.1:p.Leu972Met
XM_011510971.1:c.2860C>A	XP_011509273.1:p.Leu954Met
XM_011510972.1:c.2860C>A	XP_011509274.1:p.Leu954Met
XM_011510973.1:c.2680C>A	XP_011509275.1:p.Leu894Met
XM_011510974.1:c.2629C>A	XP_011509276.1:p.Leu877Met
XM_006712422.3:c.3004C>A	XP_006712485.1:p.Leu1002Met
XM_011510969.2:c.3307C>A	XP_011509271.2:p.Leu1103Met
XM_011510970.2:c.2914C>A	XP_011509272.1:p.Leu972Met
XM_011510971.2:c.2860C>A	XP_011509273.1:p.Leu954Met
XM_011510972.2:c.2956C>A	XP_011509274.2:p.Leu986Met
XM_011510973.2:c.2680C>A	XP_011509275.1:p.Leu894Met
XM_011510974.2:c.2629C>A	XP_011509276.1:p.Leu877Met
XM_017003818.1:c.3256C>A	XP_016859307.1:p.Leu1086Met
XM_024452794.1:c.3055C>A	XP_024308562.1:p.Leu1019Met
XM_024452795.1:c.3055C>A	XP_024308563.1:p.Leu1019Met
NM_001371271.1:c.3055C>A	NP_001358200.1:p.Leu1019Met
NM_001374353.1:c.3004C>A MANE Select	NP_001361282.1:p.Leu1002Met
NM_001374354.1:c.2629C>A	NP_001361283.1:p.Leu877Met
NM_005270.5:c.3055C>A	NP_005261.2:p.Leu1019Met