Canonical Allele Identifier: CA1851906

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2637675
• ClinVar RCV Id: RCV003404973
• dbSNP Id: rs773737195
• ExAC: 2:121736086 A / C
• gnomAD v2: 2-121736086-A-C
• gnomAD v4: 2-120978510-A-C
• MyVariant Identifiers: chr2:g.121736086A>C (hg19) ; chr2:g.120978510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978510A>C , CM000664.2:g.120978510A>C	GRCh38
NC_000002.11:g.121736086A>C , CM000664.1:g.121736086A>C	GRCh37
NC_000002.10:g.121452556A>C	NCBI36
NG_009030.1:g.186220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1394A>C MANE Select	ENSP00000354586.5:p.Lys465Thr
ENST00000452319.6:c.1445A>C	ENSP00000390436.1:p.Lys482Thr
ENST00000314490.15:c.458A>C	ENSP00000312694.12:p.Lys153Thr
ENST00000341310.10:c.*493A>C	ENSP00000344473.6:n.*493A>C
ENST00000361492.8:c.1445A>C	ENSP00000354586.4:p.Lys482Thr
ENST00000435313.6:n.1419A>C
ENST00000437950.5:c.*544A>C	ENSP00000415773.1:n.*544A>C
ENST00000438299.5:c.*544A>C	ENSP00000400593.1:n.*544A>C
ENST00000445186.5:c.*544A>C	ENSP00000397488.1:n.*544A>C
ENST00000452319.5:c.1445A>C	ENSP00000390436.1:p.Lys482Thr
ENST00000452692.5:c.*493A>C	ENSP00000403715.1:n.*493A>C
NM_005270.4:c.1445A>C	NP_005261.2:p.Lys482Thr
XM_006712422.1:c.1394A>C	XP_006712485.1:p.Lys465Thr
XM_011510969.1:c.1427A>C	XP_011509271.1:p.Lys476Thr
XM_011510970.1:c.1304A>C	XP_011509272.1:p.Lys435Thr
XM_011510971.1:c.1250A>C	XP_011509273.1:p.Lys417Thr
XM_011510972.1:c.1250A>C	XP_011509274.1:p.Lys417Thr
XM_011510973.1:c.1070A>C	XP_011509275.1:p.Lys357Thr
XM_011510974.1:c.1019A>C	XP_011509276.1:p.Lys340Thr
XM_006712422.3:c.1394A>C	XP_006712485.1:p.Lys465Thr
XM_011510969.2:c.1697A>C	XP_011509271.2:p.Lys566Thr
XM_011510970.2:c.1304A>C	XP_011509272.1:p.Lys435Thr
XM_011510971.2:c.1250A>C	XP_011509273.1:p.Lys417Thr
XM_011510972.2:c.1346A>C	XP_011509274.2:p.Lys449Thr
XM_011510973.2:c.1070A>C	XP_011509275.1:p.Lys357Thr
XM_011510974.2:c.1019A>C	XP_011509276.1:p.Lys340Thr
XM_017003818.1:c.1646A>C	XP_016859307.1:p.Lys549Thr
XM_024452794.1:c.1445A>C	XP_024308562.1:p.Lys482Thr
XM_024452795.1:c.1445A>C	XP_024308563.1:p.Lys482Thr
NM_001371271.1:c.1445A>C	NP_001358200.1:p.Lys482Thr
NM_001374353.1:c.1394A>C MANE Select	NP_001361282.1:p.Lys465Thr
NM_001374354.1:c.1019A>C	NP_001361283.1:p.Lys340Thr
NM_005270.5:c.1445A>C	NP_005261.2:p.Lys482Thr