Canonical Allele Identifier: CA348172479

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746653C>G (hg19) ; chr2:g.120989077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989077C>G , CM000664.2:g.120989077C>G	GRCh38
NC_000002.11:g.121746653C>G , CM000664.1:g.121746653C>G	GRCh37
NC_000002.10:g.121463123C>G	NCBI36
NG_009030.1:g.196787C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3112C>G MANE Select	ENSP00000354586.5:p.Leu1038Val
ENST00000452319.6:c.3163C>G	ENSP00000390436.1:p.Leu1055Val
ENST00000341310.10:c.*2211C>G	ENSP00000344473.6:n.*2211C>G
ENST00000361492.8:c.3163C>G	ENSP00000354586.4:p.Leu1055Val
ENST00000438299.5:c.*2262C>G	ENSP00000400593.1:n.*2262C>G
ENST00000445186.5:c.*2262C>G	ENSP00000397488.1:n.*2262C>G
ENST00000452319.5:c.3163C>G	ENSP00000390436.1:p.Leu1055Val
ENST00000452692.5:c.*2211C>G	ENSP00000403715.1:n.*2211C>G
NM_005270.4:c.3163C>G	NP_005261.2:p.Leu1055Val
XM_006712422.1:c.3112C>G	XP_006712485.1:p.Leu1038Val
XM_011510969.1:c.3145C>G	XP_011509271.1:p.Leu1049Val
XM_011510970.1:c.3022C>G	XP_011509272.1:p.Leu1008Val
XM_011510971.1:c.2968C>G	XP_011509273.1:p.Leu990Val
XM_011510972.1:c.2968C>G	XP_011509274.1:p.Leu990Val
XM_011510973.1:c.2788C>G	XP_011509275.1:p.Leu930Val
XM_011510974.1:c.2737C>G	XP_011509276.1:p.Leu913Val
XM_006712422.3:c.3112C>G	XP_006712485.1:p.Leu1038Val
XM_011510969.2:c.3415C>G	XP_011509271.2:p.Leu1139Val
XM_011510970.2:c.3022C>G	XP_011509272.1:p.Leu1008Val
XM_011510971.2:c.2968C>G	XP_011509273.1:p.Leu990Val
XM_011510972.2:c.3064C>G	XP_011509274.2:p.Leu1022Val
XM_011510973.2:c.2788C>G	XP_011509275.1:p.Leu930Val
XM_011510974.2:c.2737C>G	XP_011509276.1:p.Leu913Val
XM_017003818.1:c.3364C>G	XP_016859307.1:p.Leu1122Val
XM_024452794.1:c.3163C>G	XP_024308562.1:p.Leu1055Val
XM_024452795.1:c.3163C>G	XP_024308563.1:p.Leu1055Val
NM_001371271.1:c.3163C>G	NP_001358200.1:p.Leu1055Val
NM_001374353.1:c.3112C>G MANE Select	NP_001361282.1:p.Leu1038Val
NM_001374354.1:c.2737C>G	NP_001361283.1:p.Leu913Val
NM_005270.5:c.3163C>G	NP_005261.2:p.Leu1055Val