Canonical Allele Identifier: CA348161372

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736014T>G (hg19) ; chr2:g.120978438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978438T>G , CM000664.2:g.120978438T>G	GRCh38
NC_000002.11:g.121736014T>G , CM000664.1:g.121736014T>G	GRCh37
NC_000002.10:g.121452484T>G	NCBI36
NG_009030.1:g.186148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1322T>G MANE Select	ENSP00000354586.5:p.Ile441Ser
ENST00000452319.6:c.1373T>G	ENSP00000390436.1:p.Ile458Ser
ENST00000314490.15:c.386T>G	ENSP00000312694.12:p.Ile129Ser
ENST00000341310.10:c.*421T>G	ENSP00000344473.6:n.*421T>G
ENST00000361492.8:c.1373T>G	ENSP00000354586.4:p.Ile458Ser
ENST00000435313.6:n.1347T>G
ENST00000437950.5:c.*472T>G	ENSP00000415773.1:n.*472T>G
ENST00000438299.5:c.*472T>G	ENSP00000400593.1:n.*472T>G
ENST00000445186.5:c.*472T>G	ENSP00000397488.1:n.*472T>G
ENST00000452319.5:c.1373T>G	ENSP00000390436.1:p.Ile458Ser
ENST00000452692.5:c.*421T>G	ENSP00000403715.1:n.*421T>G
NM_005270.4:c.1373T>G	NP_005261.2:p.Ile458Ser
XM_006712422.1:c.1322T>G	XP_006712485.1:p.Ile441Ser
XM_011510969.1:c.1355T>G	XP_011509271.1:p.Ile452Ser
XM_011510970.1:c.1232T>G	XP_011509272.1:p.Ile411Ser
XM_011510971.1:c.1178T>G	XP_011509273.1:p.Ile393Ser
XM_011510972.1:c.1178T>G	XP_011509274.1:p.Ile393Ser
XM_011510973.1:c.998T>G	XP_011509275.1:p.Ile333Ser
XM_011510974.1:c.947T>G	XP_011509276.1:p.Ile316Ser
XM_006712422.3:c.1322T>G	XP_006712485.1:p.Ile441Ser
XM_011510969.2:c.1625T>G	XP_011509271.2:p.Ile542Ser
XM_011510970.2:c.1232T>G	XP_011509272.1:p.Ile411Ser
XM_011510971.2:c.1178T>G	XP_011509273.1:p.Ile393Ser
XM_011510972.2:c.1274T>G	XP_011509274.2:p.Ile425Ser
XM_011510973.2:c.998T>G	XP_011509275.1:p.Ile333Ser
XM_011510974.2:c.947T>G	XP_011509276.1:p.Ile316Ser
XM_017003818.1:c.1574T>G	XP_016859307.1:p.Ile525Ser
XM_024452794.1:c.1373T>G	XP_024308562.1:p.Ile458Ser
XM_024452795.1:c.1373T>G	XP_024308563.1:p.Ile458Ser
NM_001371271.1:c.1373T>G	NP_001358200.1:p.Ile458Ser
NM_001374353.1:c.1322T>G MANE Select	NP_001361282.1:p.Ile441Ser
NM_001374354.1:c.947T>G	NP_001361283.1:p.Ile316Ser
NM_005270.5:c.1373T>G	NP_005261.2:p.Ile458Ser