Canonical Allele Identifier: CA348180452

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748233C>A (hg19) ; chr2:g.120990657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990657C>A , CM000664.2:g.120990657C>A	GRCh38
NC_000002.11:g.121748233C>A , CM000664.1:g.121748233C>A	GRCh37
NC_000002.10:g.121464703C>A	NCBI36
NG_009030.1:g.198367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4692C>A MANE Select	ENSP00000354586.5:p.Phe1564Leu
ENST00000452319.6:c.4743C>A	ENSP00000390436.1:p.Phe1581Leu
ENST00000341310.10:c.*3791C>A	ENSP00000344473.6:n.*3791C>A
ENST00000361492.8:c.4743C>A	ENSP00000354586.4:p.Phe1581Leu
ENST00000438299.5:c.*2611C>A	ENSP00000400593.1:n.*2611C>A
ENST00000445186.5:c.*3842C>A	ENSP00000397488.1:n.*3842C>A
ENST00000452319.5:c.4743C>A	ENSP00000390436.1:p.Phe1581Leu
ENST00000452692.5:c.*2560C>A	ENSP00000403715.1:n.*2560C>A
NM_005270.4:c.4743C>A	NP_005261.2:p.Phe1581Leu
XM_006712422.1:c.4692C>A	XP_006712485.1:p.Phe1564Leu
XM_011510969.1:c.4725C>A	XP_011509271.1:p.Phe1575Leu
XM_011510970.1:c.4602C>A	XP_011509272.1:p.Phe1534Leu
XM_011510971.1:c.4548C>A	XP_011509273.1:p.Phe1516Leu
XM_011510972.1:c.4548C>A	XP_011509274.1:p.Phe1516Leu
XM_011510973.1:c.4368C>A	XP_011509275.1:p.Phe1456Leu
XM_011510974.1:c.4317C>A	XP_011509276.1:p.Phe1439Leu
XM_006712422.3:c.4692C>A	XP_006712485.1:p.Phe1564Leu
XM_011510969.2:c.4995C>A	XP_011509271.2:p.Phe1665Leu
XM_011510970.2:c.4602C>A	XP_011509272.1:p.Phe1534Leu
XM_011510971.2:c.4548C>A	XP_011509273.1:p.Phe1516Leu
XM_011510972.2:c.4644C>A	XP_011509274.2:p.Phe1548Leu
XM_011510973.2:c.4368C>A	XP_011509275.1:p.Phe1456Leu
XM_011510974.2:c.4317C>A	XP_011509276.1:p.Phe1439Leu
XM_017003818.1:c.4944C>A	XP_016859307.1:p.Phe1648Leu
XM_024452794.1:c.4743C>A	XP_024308562.1:p.Phe1581Leu
XM_024452795.1:c.4743C>A	XP_024308563.1:p.Phe1581Leu
NM_001371271.1:c.4743C>A	NP_001358200.1:p.Phe1581Leu
NM_001374353.1:c.4692C>A MANE Select	NP_001361282.1:p.Phe1564Leu
NM_001374354.1:c.4317C>A	NP_001361283.1:p.Phe1439Leu
NM_005270.5:c.4743C>A	NP_005261.2:p.Phe1581Leu