Canonical Allele Identifier: CA348180381

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748219G>T (hg19) ; chr2:g.120990643G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990643G>T , CM000664.2:g.120990643G>T	GRCh38
NC_000002.11:g.121748219G>T , CM000664.1:g.121748219G>T	GRCh37
NC_000002.10:g.121464689G>T	NCBI36
NG_009030.1:g.198353G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4678G>T MANE Select	ENSP00000354586.5:p.Glu1560Ter
ENST00000452319.6:c.4729G>T	ENSP00000390436.1:p.Glu1577Ter
ENST00000341310.10:c.*3777G>T	ENSP00000344473.6:n.*3777G>T
ENST00000361492.8:c.4729G>T	ENSP00000354586.4:p.Glu1577Ter
ENST00000438299.5:c.*2597G>T	ENSP00000400593.1:n.*2597G>T
ENST00000445186.5:c.*3828G>T	ENSP00000397488.1:n.*3828G>T
ENST00000452319.5:c.4729G>T	ENSP00000390436.1:p.Glu1577Ter
ENST00000452692.5:c.*2546G>T	ENSP00000403715.1:n.*2546G>T
NM_005270.4:c.4729G>T	NP_005261.2:p.Glu1577Ter
XM_006712422.1:c.4678G>T	XP_006712485.1:p.Glu1560Ter
XM_011510969.1:c.4711G>T	XP_011509271.1:p.Glu1571Ter
XM_011510970.1:c.4588G>T	XP_011509272.1:p.Glu1530Ter
XM_011510971.1:c.4534G>T	XP_011509273.1:p.Glu1512Ter
XM_011510972.1:c.4534G>T	XP_011509274.1:p.Glu1512Ter
XM_011510973.1:c.4354G>T	XP_011509275.1:p.Glu1452Ter
XM_011510974.1:c.4303G>T	XP_011509276.1:p.Glu1435Ter
XM_006712422.3:c.4678G>T	XP_006712485.1:p.Glu1560Ter
XM_011510969.2:c.4981G>T	XP_011509271.2:p.Glu1661Ter
XM_011510970.2:c.4588G>T	XP_011509272.1:p.Glu1530Ter
XM_011510971.2:c.4534G>T	XP_011509273.1:p.Glu1512Ter
XM_011510972.2:c.4630G>T	XP_011509274.2:p.Glu1544Ter
XM_011510973.2:c.4354G>T	XP_011509275.1:p.Glu1452Ter
XM_011510974.2:c.4303G>T	XP_011509276.1:p.Glu1435Ter
XM_017003818.1:c.4930G>T	XP_016859307.1:p.Glu1644Ter
XM_024452794.1:c.4729G>T	XP_024308562.1:p.Glu1577Ter
XM_024452795.1:c.4729G>T	XP_024308563.1:p.Glu1577Ter
NM_001371271.1:c.4729G>T	NP_001358200.1:p.Glu1577Ter
NM_001374353.1:c.4678G>T MANE Select	NP_001361282.1:p.Glu1560Ter
NM_001374354.1:c.4303G>T	NP_001361283.1:p.Glu1435Ter
NM_005270.5:c.4729G>T	NP_005261.2:p.Glu1577Ter