Canonical Allele Identifier: CA1852540

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989995G>T , CM000664.2:g.120989995G>T	GRCh38
NC_000002.11:g.121747571G>T , CM000664.1:g.121747571G>T	GRCh37
NC_000002.10:g.121464041G>T	NCBI36
NG_009030.1:g.197705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4030G>T MANE Select	ENSP00000354586.5:p.Val1344Leu
ENST00000452319.6:c.4081G>T	ENSP00000390436.1:p.Val1361Leu
ENST00000341310.10:c.*3129G>T	ENSP00000344473.6:n.*3129G>T
ENST00000361492.8:c.4081G>T	ENSP00000354586.4:p.Val1361Leu
ENST00000438299.5:c.*2544-595G>T	ENSP00000400593.1:n.*2544-595G>T
ENST00000445186.5:c.*3180G>T	ENSP00000397488.1:n.*3180G>T
ENST00000452319.5:c.4081G>T	ENSP00000390436.1:p.Val1361Leu
ENST00000452692.5:c.*2493-595G>T	ENSP00000403715.1:n.*2493-595G>T
NM_005270.4:c.4081G>T	NP_005261.2:p.Val1361Leu
XM_006712422.1:c.4030G>T	XP_006712485.1:p.Val1344Leu
XM_011510969.1:c.4063G>T	XP_011509271.1:p.Val1355Leu
XM_011510970.1:c.3940G>T	XP_011509272.1:p.Val1314Leu
XM_011510971.1:c.3886G>T	XP_011509273.1:p.Val1296Leu
XM_011510972.1:c.3886G>T	XP_011509274.1:p.Val1296Leu
XM_011510973.1:c.3706G>T	XP_011509275.1:p.Val1236Leu
XM_011510974.1:c.3655G>T	XP_011509276.1:p.Val1219Leu
XM_006712422.3:c.4030G>T	XP_006712485.1:p.Val1344Leu
XM_011510969.2:c.4333G>T	XP_011509271.2:p.Val1445Leu
XM_011510970.2:c.3940G>T	XP_011509272.1:p.Val1314Leu
XM_011510971.2:c.3886G>T	XP_011509273.1:p.Val1296Leu
XM_011510972.2:c.3982G>T	XP_011509274.2:p.Val1328Leu
XM_011510973.2:c.3706G>T	XP_011509275.1:p.Val1236Leu
XM_011510974.2:c.3655G>T	XP_011509276.1:p.Val1219Leu
XM_017003818.1:c.4282G>T	XP_016859307.1:p.Val1428Leu
XM_024452794.1:c.4081G>T	XP_024308562.1:p.Val1361Leu
XM_024452795.1:c.4081G>T	XP_024308563.1:p.Val1361Leu
NM_001371271.1:c.4081G>T	NP_001358200.1:p.Val1361Leu
NM_001374353.1:c.4030G>T MANE Select	NP_001361282.1:p.Val1344Leu
NM_001374354.1:c.3655G>T	NP_001361283.1:p.Val1219Leu
NM_005270.5:c.4081G>T	NP_005261.2:p.Val1361Leu