Canonical Allele Identifier: CA348173145

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746759G>C (hg19) ; chr2:g.120989183G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989183G>C , CM000664.2:g.120989183G>C	GRCh38
NC_000002.11:g.121746759G>C , CM000664.1:g.121746759G>C	GRCh37
NC_000002.10:g.121463229G>C	NCBI36
NG_009030.1:g.196893G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3218G>C MANE Select	ENSP00000354586.5:p.Ser1073Thr
ENST00000452319.6:c.3269G>C	ENSP00000390436.1:p.Ser1090Thr
ENST00000341310.10:c.*2317G>C	ENSP00000344473.6:n.*2317G>C
ENST00000361492.8:c.3269G>C	ENSP00000354586.4:p.Ser1090Thr
ENST00000438299.5:c.*2368G>C	ENSP00000400593.1:n.*2368G>C
ENST00000445186.5:c.*2368G>C	ENSP00000397488.1:n.*2368G>C
ENST00000452319.5:c.3269G>C	ENSP00000390436.1:p.Ser1090Thr
ENST00000452692.5:c.*2317G>C	ENSP00000403715.1:n.*2317G>C
NM_005270.4:c.3269G>C	NP_005261.2:p.Ser1090Thr
XM_006712422.1:c.3218G>C	XP_006712485.1:p.Ser1073Thr
XM_011510969.1:c.3251G>C	XP_011509271.1:p.Ser1084Thr
XM_011510970.1:c.3128G>C	XP_011509272.1:p.Ser1043Thr
XM_011510971.1:c.3074G>C	XP_011509273.1:p.Ser1025Thr
XM_011510972.1:c.3074G>C	XP_011509274.1:p.Ser1025Thr
XM_011510973.1:c.2894G>C	XP_011509275.1:p.Ser965Thr
XM_011510974.1:c.2843G>C	XP_011509276.1:p.Ser948Thr
XM_006712422.3:c.3218G>C	XP_006712485.1:p.Ser1073Thr
XM_011510969.2:c.3521G>C	XP_011509271.2:p.Ser1174Thr
XM_011510970.2:c.3128G>C	XP_011509272.1:p.Ser1043Thr
XM_011510971.2:c.3074G>C	XP_011509273.1:p.Ser1025Thr
XM_011510972.2:c.3170G>C	XP_011509274.2:p.Ser1057Thr
XM_011510973.2:c.2894G>C	XP_011509275.1:p.Ser965Thr
XM_011510974.2:c.2843G>C	XP_011509276.1:p.Ser948Thr
XM_017003818.1:c.3470G>C	XP_016859307.1:p.Ser1157Thr
XM_024452794.1:c.3269G>C	XP_024308562.1:p.Ser1090Thr
XM_024452795.1:c.3269G>C	XP_024308563.1:p.Ser1090Thr
NM_001371271.1:c.3269G>C	NP_001358200.1:p.Ser1090Thr
NM_001374353.1:c.3218G>C MANE Select	NP_001361282.1:p.Ser1073Thr
NM_001374354.1:c.2843G>C	NP_001361283.1:p.Ser948Thr
NM_005270.5:c.3269G>C	NP_005261.2:p.Ser1090Thr