Canonical Allele Identifier: CA348180162

Gene: GLI2

Linked Data

• dbSNP Id: rs371304728
• MyVariant Identifiers: chr2:g.121748133G>T (hg19) ; chr2:g.120990557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990557G>T , CM000664.2:g.120990557G>T	GRCh38
NC_000002.11:g.121748133G>T , CM000664.1:g.121748133G>T	GRCh37
NC_000002.10:g.121464603G>T	NCBI36
NG_009030.1:g.198267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4592G>T MANE Select	ENSP00000354586.5:p.Arg1531Leu
ENST00000452319.6:c.4643G>T	ENSP00000390436.1:p.Arg1548Leu
ENST00000341310.10:c.*3691G>T	ENSP00000344473.6:n.*3691G>T
ENST00000361492.8:c.4643G>T	ENSP00000354586.4:p.Arg1548Leu
ENST00000438299.5:c.*2544-33G>T	ENSP00000400593.1:n.*2544-33G>T
ENST00000445186.5:c.*3742G>T	ENSP00000397488.1:n.*3742G>T
ENST00000452319.5:c.4643G>T	ENSP00000390436.1:p.Arg1548Leu
ENST00000452692.5:c.*2493-33G>T	ENSP00000403715.1:n.*2493-33G>T
NM_005270.4:c.4643G>T	NP_005261.2:p.Arg1548Leu
XM_006712422.1:c.4592G>T	XP_006712485.1:p.Arg1531Leu
XM_011510969.1:c.4625G>T	XP_011509271.1:p.Arg1542Leu
XM_011510970.1:c.4502G>T	XP_011509272.1:p.Arg1501Leu
XM_011510971.1:c.4448G>T	XP_011509273.1:p.Arg1483Leu
XM_011510972.1:c.4448G>T	XP_011509274.1:p.Arg1483Leu
XM_011510973.1:c.4268G>T	XP_011509275.1:p.Arg1423Leu
XM_011510974.1:c.4217G>T	XP_011509276.1:p.Arg1406Leu
XM_006712422.3:c.4592G>T	XP_006712485.1:p.Arg1531Leu
XM_011510969.2:c.4895G>T	XP_011509271.2:p.Arg1632Leu
XM_011510970.2:c.4502G>T	XP_011509272.1:p.Arg1501Leu
XM_011510971.2:c.4448G>T	XP_011509273.1:p.Arg1483Leu
XM_011510972.2:c.4544G>T	XP_011509274.2:p.Arg1515Leu
XM_011510973.2:c.4268G>T	XP_011509275.1:p.Arg1423Leu
XM_011510974.2:c.4217G>T	XP_011509276.1:p.Arg1406Leu
XM_017003818.1:c.4844G>T	XP_016859307.1:p.Arg1615Leu
XM_024452794.1:c.4643G>T	XP_024308562.1:p.Arg1548Leu
XM_024452795.1:c.4643G>T	XP_024308563.1:p.Arg1548Leu
NM_001371271.1:c.4643G>T	NP_001358200.1:p.Arg1548Leu
NM_001374353.1:c.4592G>T MANE Select	NP_001361282.1:p.Arg1531Leu
NM_001374354.1:c.4217G>T	NP_001361283.1:p.Arg1406Leu
NM_005270.5:c.4643G>T	NP_005261.2:p.Arg1548Leu