Canonical Allele Identifier: CA348180193

Gene: GLI2

Linked Data

• COSMIC: COSM1006003
• MyVariant Identifiers: chr2:g.121748150C>T (hg19) ; chr2:g.120990574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990574C>T , CM000664.2:g.120990574C>T	GRCh38
NC_000002.11:g.121748150C>T , CM000664.1:g.121748150C>T	GRCh37
NC_000002.10:g.121464620C>T	NCBI36
NG_009030.1:g.198284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4609C>T MANE Select	ENSP00000354586.5:p.Pro1537Ser
ENST00000452319.6:c.4660C>T	ENSP00000390436.1:p.Pro1554Ser
ENST00000341310.10:c.*3708C>T	ENSP00000344473.6:n.*3708C>T
ENST00000361492.8:c.4660C>T	ENSP00000354586.4:p.Pro1554Ser
ENST00000438299.5:c.*2544-16C>T	ENSP00000400593.1:n.*2544-16C>T
ENST00000445186.5:c.*3759C>T	ENSP00000397488.1:n.*3759C>T
ENST00000452319.5:c.4660C>T	ENSP00000390436.1:p.Pro1554Ser
ENST00000452692.5:c.*2493-16C>T	ENSP00000403715.1:n.*2493-16C>T
NM_005270.4:c.4660C>T	NP_005261.2:p.Pro1554Ser
XM_006712422.1:c.4609C>T	XP_006712485.1:p.Pro1537Ser
XM_011510969.1:c.4642C>T	XP_011509271.1:p.Pro1548Ser
XM_011510970.1:c.4519C>T	XP_011509272.1:p.Pro1507Ser
XM_011510971.1:c.4465C>T	XP_011509273.1:p.Pro1489Ser
XM_011510972.1:c.4465C>T	XP_011509274.1:p.Pro1489Ser
XM_011510973.1:c.4285C>T	XP_011509275.1:p.Pro1429Ser
XM_011510974.1:c.4234C>T	XP_011509276.1:p.Pro1412Ser
XM_006712422.3:c.4609C>T	XP_006712485.1:p.Pro1537Ser
XM_011510969.2:c.4912C>T	XP_011509271.2:p.Pro1638Ser
XM_011510970.2:c.4519C>T	XP_011509272.1:p.Pro1507Ser
XM_011510971.2:c.4465C>T	XP_011509273.1:p.Pro1489Ser
XM_011510972.2:c.4561C>T	XP_011509274.2:p.Pro1521Ser
XM_011510973.2:c.4285C>T	XP_011509275.1:p.Pro1429Ser
XM_011510974.2:c.4234C>T	XP_011509276.1:p.Pro1412Ser
XM_017003818.1:c.4861C>T	XP_016859307.1:p.Pro1621Ser
XM_024452794.1:c.4660C>T	XP_024308562.1:p.Pro1554Ser
XM_024452795.1:c.4660C>T	XP_024308563.1:p.Pro1554Ser
NM_001371271.1:c.4660C>T	NP_001358200.1:p.Pro1554Ser
NM_001374353.1:c.4609C>T MANE Select	NP_001361282.1:p.Pro1537Ser
NM_001374354.1:c.4234C>T	NP_001361283.1:p.Pro1412Ser
NM_005270.5:c.4660C>T	NP_005261.2:p.Pro1554Ser