Canonical Allele Identifier: CA348175743

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989637G>T , CM000664.2:g.120989637G>T	GRCh38
NC_000002.11:g.121747213G>T , CM000664.1:g.121747213G>T	GRCh37
NC_000002.10:g.121463683G>T	NCBI36
NG_009030.1:g.197347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3672G>T MANE Select	ENSP00000354586.5:p.Met1224Ile
ENST00000452319.6:c.3723G>T	ENSP00000390436.1:p.Met1241Ile
ENST00000341310.10:c.*2771G>T	ENSP00000344473.6:n.*2771G>T
ENST00000361492.8:c.3723G>T	ENSP00000354586.4:p.Met1241Ile
ENST00000438299.5:c.*2543+279G>T	ENSP00000400593.1:n.*2543+279G>T
ENST00000445186.5:c.*2822G>T	ENSP00000397488.1:n.*2822G>T
ENST00000452319.5:c.3723G>T	ENSP00000390436.1:p.Met1241Ile
ENST00000452692.5:c.*2492+279G>T	ENSP00000403715.1:n.*2492+279G>T
NM_005270.4:c.3723G>T	NP_005261.2:p.Met1241Ile
XM_006712422.1:c.3672G>T	XP_006712485.1:p.Met1224Ile
XM_011510969.1:c.3705G>T	XP_011509271.1:p.Met1235Ile
XM_011510970.1:c.3582G>T	XP_011509272.1:p.Met1194Ile
XM_011510971.1:c.3528G>T	XP_011509273.1:p.Met1176Ile
XM_011510972.1:c.3528G>T	XP_011509274.1:p.Met1176Ile
XM_011510973.1:c.3348G>T	XP_011509275.1:p.Met1116Ile
XM_011510974.1:c.3297G>T	XP_011509276.1:p.Met1099Ile
XM_006712422.3:c.3672G>T	XP_006712485.1:p.Met1224Ile
XM_011510969.2:c.3975G>T	XP_011509271.2:p.Met1325Ile
XM_011510970.2:c.3582G>T	XP_011509272.1:p.Met1194Ile
XM_011510971.2:c.3528G>T	XP_011509273.1:p.Met1176Ile
XM_011510972.2:c.3624G>T	XP_011509274.2:p.Met1208Ile
XM_011510973.2:c.3348G>T	XP_011509275.1:p.Met1116Ile
XM_011510974.2:c.3297G>T	XP_011509276.1:p.Met1099Ile
XM_017003818.1:c.3924G>T	XP_016859307.1:p.Met1308Ile
XM_024452794.1:c.3723G>T	XP_024308562.1:p.Met1241Ile
XM_024452795.1:c.3723G>T	XP_024308563.1:p.Met1241Ile
NM_001371271.1:c.3723G>T	NP_001358200.1:p.Met1241Ile
NM_001374353.1:c.3672G>T MANE Select	NP_001361282.1:p.Met1224Ile
NM_001374354.1:c.3297G>T	NP_001361283.1:p.Met1099Ile
NM_005270.5:c.3723G>T	NP_005261.2:p.Met1241Ile