Canonical Allele Identifier: CA348180237

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990596-G-C
• MyVariant Identifiers: chr2:g.121748172G>C (hg19) ; chr2:g.120990596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990596G>C , CM000664.2:g.120990596G>C	GRCh38
NC_000002.11:g.121748172G>C , CM000664.1:g.121748172G>C	GRCh37
NC_000002.10:g.121464642G>C	NCBI36
NG_009030.1:g.198306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4631G>C MANE Select	ENSP00000354586.5:p.Ser1544Thr
ENST00000452319.6:c.4682G>C	ENSP00000390436.1:p.Ser1561Thr
ENST00000341310.10:c.*3730G>C	ENSP00000344473.6:n.*3730G>C
ENST00000361492.8:c.4682G>C	ENSP00000354586.4:p.Ser1561Thr
ENST00000438299.5:c.*2550G>C	ENSP00000400593.1:n.*2550G>C
ENST00000445186.5:c.*3781G>C	ENSP00000397488.1:n.*3781G>C
ENST00000452319.5:c.4682G>C	ENSP00000390436.1:p.Ser1561Thr
ENST00000452692.5:c.*2499G>C	ENSP00000403715.1:n.*2499G>C
NM_005270.4:c.4682G>C	NP_005261.2:p.Ser1561Thr
XM_006712422.1:c.4631G>C	XP_006712485.1:p.Ser1544Thr
XM_011510969.1:c.4664G>C	XP_011509271.1:p.Ser1555Thr
XM_011510970.1:c.4541G>C	XP_011509272.1:p.Ser1514Thr
XM_011510971.1:c.4487G>C	XP_011509273.1:p.Ser1496Thr
XM_011510972.1:c.4487G>C	XP_011509274.1:p.Ser1496Thr
XM_011510973.1:c.4307G>C	XP_011509275.1:p.Ser1436Thr
XM_011510974.1:c.4256G>C	XP_011509276.1:p.Ser1419Thr
XM_006712422.3:c.4631G>C	XP_006712485.1:p.Ser1544Thr
XM_011510969.2:c.4934G>C	XP_011509271.2:p.Ser1645Thr
XM_011510970.2:c.4541G>C	XP_011509272.1:p.Ser1514Thr
XM_011510971.2:c.4487G>C	XP_011509273.1:p.Ser1496Thr
XM_011510972.2:c.4583G>C	XP_011509274.2:p.Ser1528Thr
XM_011510973.2:c.4307G>C	XP_011509275.1:p.Ser1436Thr
XM_011510974.2:c.4256G>C	XP_011509276.1:p.Ser1419Thr
XM_017003818.1:c.4883G>C	XP_016859307.1:p.Ser1628Thr
XM_024452794.1:c.4682G>C	XP_024308562.1:p.Ser1561Thr
XM_024452795.1:c.4682G>C	XP_024308563.1:p.Ser1561Thr
NM_001371271.1:c.4682G>C	NP_001358200.1:p.Ser1561Thr
NM_001374353.1:c.4631G>C MANE Select	NP_001361282.1:p.Ser1544Thr
NM_001374354.1:c.4256G>C	NP_001361283.1:p.Ser1419Thr
NM_005270.5:c.4682G>C	NP_005261.2:p.Ser1561Thr