Canonical Allele Identifier: CA348161698

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978581-A-C
• MyVariant Identifiers: chr2:g.121736157A>C (hg19) ; chr2:g.120978581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978581A>C , CM000664.2:g.120978581A>C	GRCh38
NC_000002.11:g.121736157A>C , CM000664.1:g.121736157A>C	GRCh37
NC_000002.10:g.121452627A>C	NCBI36
NG_009030.1:g.186291A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1465A>C MANE Select	ENSP00000354586.5:p.Thr489Pro
ENST00000452319.6:c.1516A>C	ENSP00000390436.1:p.Thr506Pro
ENST00000314490.15:c.529A>C	ENSP00000312694.12:p.Thr177Pro
ENST00000341310.10:c.*564A>C	ENSP00000344473.6:n.*564A>C
ENST00000361492.8:c.1516A>C	ENSP00000354586.4:p.Thr506Pro
ENST00000435313.6:n.1490A>C
ENST00000437950.5:c.*615A>C	ENSP00000415773.1:n.*615A>C
ENST00000438299.5:c.*615A>C	ENSP00000400593.1:n.*615A>C
ENST00000445186.5:c.*615A>C	ENSP00000397488.1:n.*615A>C
ENST00000452319.5:c.1516A>C	ENSP00000390436.1:p.Thr506Pro
ENST00000452692.5:c.*564A>C	ENSP00000403715.1:n.*564A>C
NM_005270.4:c.1516A>C	NP_005261.2:p.Thr506Pro
XM_006712422.1:c.1465A>C	XP_006712485.1:p.Thr489Pro
XM_011510969.1:c.1498A>C	XP_011509271.1:p.Thr500Pro
XM_011510970.1:c.1375A>C	XP_011509272.1:p.Thr459Pro
XM_011510971.1:c.1321A>C	XP_011509273.1:p.Thr441Pro
XM_011510972.1:c.1321A>C	XP_011509274.1:p.Thr441Pro
XM_011510973.1:c.1141A>C	XP_011509275.1:p.Thr381Pro
XM_011510974.1:c.1090A>C	XP_011509276.1:p.Thr364Pro
XM_006712422.3:c.1465A>C	XP_006712485.1:p.Thr489Pro
XM_011510969.2:c.1768A>C	XP_011509271.2:p.Thr590Pro
XM_011510970.2:c.1375A>C	XP_011509272.1:p.Thr459Pro
XM_011510971.2:c.1321A>C	XP_011509273.1:p.Thr441Pro
XM_011510972.2:c.1417A>C	XP_011509274.2:p.Thr473Pro
XM_011510973.2:c.1141A>C	XP_011509275.1:p.Thr381Pro
XM_011510974.2:c.1090A>C	XP_011509276.1:p.Thr364Pro
XM_017003818.1:c.1717A>C	XP_016859307.1:p.Thr573Pro
XM_024452794.1:c.1516A>C	XP_024308562.1:p.Thr506Pro
XM_024452795.1:c.1516A>C	XP_024308563.1:p.Thr506Pro
NM_001371271.1:c.1516A>C	NP_001358200.1:p.Thr506Pro
NM_001374353.1:c.1465A>C MANE Select	NP_001361282.1:p.Thr489Pro
NM_001374354.1:c.1090A>C	NP_001361283.1:p.Thr364Pro
NM_005270.5:c.1516A>C	NP_005261.2:p.Thr506Pro