Canonical Allele Identifier: CA348161373

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978438-T-C
• MyVariant Identifiers: chr2:g.121736014T>C (hg19) ; chr2:g.120978438T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1322T>C MANE Select	ENSP00000354586.5:p.Ile441Thr
ENST00000452319.6:c.1373T>C	ENSP00000390436.1:p.Ile458Thr
ENST00000314490.15:c.386T>C	ENSP00000312694.12:p.Ile129Thr
ENST00000341310.10:c.*421T>C	ENSP00000344473.6:n.*421T>C
ENST00000361492.8:c.1373T>C	ENSP00000354586.4:p.Ile458Thr
ENST00000435313.6:n.1347T>C
ENST00000437950.5:c.*472T>C	ENSP00000415773.1:n.*472T>C
ENST00000438299.5:c.*472T>C	ENSP00000400593.1:n.*472T>C
ENST00000445186.5:c.*472T>C	ENSP00000397488.1:n.*472T>C
ENST00000452319.5:c.1373T>C	ENSP00000390436.1:p.Ile458Thr
ENST00000452692.5:c.*421T>C	ENSP00000403715.1:n.*421T>C
NM_005270.4:c.1373T>C	NP_005261.2:p.Ile458Thr
XM_006712422.1:c.1322T>C	XP_006712485.1:p.Ile441Thr
XM_011510969.1:c.1355T>C	XP_011509271.1:p.Ile452Thr
XM_011510970.1:c.1232T>C	XP_011509272.1:p.Ile411Thr
XM_011510971.1:c.1178T>C	XP_011509273.1:p.Ile393Thr
XM_011510972.1:c.1178T>C	XP_011509274.1:p.Ile393Thr
XM_011510973.1:c.998T>C	XP_011509275.1:p.Ile333Thr
XM_011510974.1:c.947T>C	XP_011509276.1:p.Ile316Thr
XM_006712422.3:c.1322T>C	XP_006712485.1:p.Ile441Thr
XM_011510969.2:c.1625T>C	XP_011509271.2:p.Ile542Thr
XM_011510970.2:c.1232T>C	XP_011509272.1:p.Ile411Thr
XM_011510971.2:c.1178T>C	XP_011509273.1:p.Ile393Thr
XM_011510972.2:c.1274T>C	XP_011509274.2:p.Ile425Thr
XM_011510973.2:c.998T>C	XP_011509275.1:p.Ile333Thr
XM_011510974.2:c.947T>C	XP_011509276.1:p.Ile316Thr
XM_017003818.1:c.1574T>C	XP_016859307.1:p.Ile525Thr
XM_024452794.1:c.1373T>C	XP_024308562.1:p.Ile458Thr
XM_024452795.1:c.1373T>C	XP_024308563.1:p.Ile458Thr
NM_001371271.1:c.1373T>C	NP_001358200.1:p.Ile458Thr
NM_001374353.1:c.1322T>C MANE Select	NP_001361282.1:p.Ile441Thr
NM_001374354.1:c.947T>C	NP_001361283.1:p.Ile316Thr
NM_005270.5:c.1373T>C	NP_005261.2:p.Ile458Thr