Canonical Allele Identifier: CA348180525

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748245G>C (hg19) ; chr2:g.120990669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990669G>C , CM000664.2:g.120990669G>C	GRCh38
NC_000002.11:g.121748245G>C , CM000664.1:g.121748245G>C	GRCh37
NC_000002.10:g.121464715G>C	NCBI36
NG_009030.1:g.198379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4704G>C MANE Select	ENSP00000354586.5:p.Met1568Ile
ENST00000452319.6:c.4755G>C	ENSP00000390436.1:p.Met1585Ile
ENST00000341310.10:c.*3803G>C	ENSP00000344473.6:n.*3803G>C
ENST00000361492.8:c.4755G>C	ENSP00000354586.4:p.Met1585Ile
ENST00000438299.5:c.*2623G>C	ENSP00000400593.1:n.*2623G>C
ENST00000445186.5:c.*3854G>C	ENSP00000397488.1:n.*3854G>C
ENST00000452319.5:c.4755G>C	ENSP00000390436.1:p.Met1585Ile
ENST00000452692.5:c.*2572G>C	ENSP00000403715.1:n.*2572G>C
NM_005270.4:c.4755G>C	NP_005261.2:p.Met1585Ile
XM_006712422.1:c.4704G>C	XP_006712485.1:p.Met1568Ile
XM_011510969.1:c.4737G>C	XP_011509271.1:p.Met1579Ile
XM_011510970.1:c.4614G>C	XP_011509272.1:p.Met1538Ile
XM_011510971.1:c.4560G>C	XP_011509273.1:p.Met1520Ile
XM_011510972.1:c.4560G>C	XP_011509274.1:p.Met1520Ile
XM_011510973.1:c.4380G>C	XP_011509275.1:p.Met1460Ile
XM_011510974.1:c.4329G>C	XP_011509276.1:p.Met1443Ile
XM_006712422.3:c.4704G>C	XP_006712485.1:p.Met1568Ile
XM_011510969.2:c.5007G>C	XP_011509271.2:p.Met1669Ile
XM_011510970.2:c.4614G>C	XP_011509272.1:p.Met1538Ile
XM_011510971.2:c.4560G>C	XP_011509273.1:p.Met1520Ile
XM_011510972.2:c.4656G>C	XP_011509274.2:p.Met1552Ile
XM_011510973.2:c.4380G>C	XP_011509275.1:p.Met1460Ile
XM_011510974.2:c.4329G>C	XP_011509276.1:p.Met1443Ile
XM_017003818.1:c.4956G>C	XP_016859307.1:p.Met1652Ile
XM_024452794.1:c.4755G>C	XP_024308562.1:p.Met1585Ile
XM_024452795.1:c.4755G>C	XP_024308563.1:p.Met1585Ile
NM_001371271.1:c.4755G>C	NP_001358200.1:p.Met1585Ile
NM_001374353.1:c.4704G>C MANE Select	NP_001361282.1:p.Met1568Ile
NM_001374354.1:c.4329G>C	NP_001361283.1:p.Met1443Ile
NM_005270.5:c.4755G>C	NP_005261.2:p.Met1585Ile