Canonical Allele Identifier: CA348180500

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748241T>A (hg19) ; chr2:g.120990665T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990665T>A , CM000664.2:g.120990665T>A	GRCh38
NC_000002.11:g.121748241T>A , CM000664.1:g.121748241T>A	GRCh37
NC_000002.10:g.121464711T>A	NCBI36
NG_009030.1:g.198375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4700T>A MANE Select	ENSP00000354586.5:p.Met1567Lys
ENST00000452319.6:c.4751T>A	ENSP00000390436.1:p.Met1584Lys
ENST00000341310.10:c.*3799T>A	ENSP00000344473.6:n.*3799T>A
ENST00000361492.8:c.4751T>A	ENSP00000354586.4:p.Met1584Lys
ENST00000438299.5:c.*2619T>A	ENSP00000400593.1:n.*2619T>A
ENST00000445186.5:c.*3850T>A	ENSP00000397488.1:n.*3850T>A
ENST00000452319.5:c.4751T>A	ENSP00000390436.1:p.Met1584Lys
ENST00000452692.5:c.*2568T>A	ENSP00000403715.1:n.*2568T>A
NM_005270.4:c.4751T>A	NP_005261.2:p.Met1584Lys
XM_006712422.1:c.4700T>A	XP_006712485.1:p.Met1567Lys
XM_011510969.1:c.4733T>A	XP_011509271.1:p.Met1578Lys
XM_011510970.1:c.4610T>A	XP_011509272.1:p.Met1537Lys
XM_011510971.1:c.4556T>A	XP_011509273.1:p.Met1519Lys
XM_011510972.1:c.4556T>A	XP_011509274.1:p.Met1519Lys
XM_011510973.1:c.4376T>A	XP_011509275.1:p.Met1459Lys
XM_011510974.1:c.4325T>A	XP_011509276.1:p.Met1442Lys
XM_006712422.3:c.4700T>A	XP_006712485.1:p.Met1567Lys
XM_011510969.2:c.5003T>A	XP_011509271.2:p.Met1668Lys
XM_011510970.2:c.4610T>A	XP_011509272.1:p.Met1537Lys
XM_011510971.2:c.4556T>A	XP_011509273.1:p.Met1519Lys
XM_011510972.2:c.4652T>A	XP_011509274.2:p.Met1551Lys
XM_011510973.2:c.4376T>A	XP_011509275.1:p.Met1459Lys
XM_011510974.2:c.4325T>A	XP_011509276.1:p.Met1442Lys
XM_017003818.1:c.4952T>A	XP_016859307.1:p.Met1651Lys
XM_024452794.1:c.4751T>A	XP_024308562.1:p.Met1584Lys
XM_024452795.1:c.4751T>A	XP_024308563.1:p.Met1584Lys
NM_001371271.1:c.4751T>A	NP_001358200.1:p.Met1584Lys
NM_001374353.1:c.4700T>A MANE Select	NP_001361282.1:p.Met1567Lys
NM_001374354.1:c.4325T>A	NP_001361283.1:p.Met1442Lys
NM_005270.5:c.4751T>A	NP_005261.2:p.Met1584Lys