Canonical Allele Identifier: CA348180195

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990574-C-A
• MyVariant Identifiers: chr2:g.121748150C>A (hg19) ; chr2:g.120990574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990574C>A , CM000664.2:g.120990574C>A	GRCh38
NC_000002.11:g.121748150C>A , CM000664.1:g.121748150C>A	GRCh37
NC_000002.10:g.121464620C>A	NCBI36
NG_009030.1:g.198284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4609C>A MANE Select	ENSP00000354586.5:p.Pro1537Thr
ENST00000452319.6:c.4660C>A	ENSP00000390436.1:p.Pro1554Thr
ENST00000341310.10:c.*3708C>A	ENSP00000344473.6:n.*3708C>A
ENST00000361492.8:c.4660C>A	ENSP00000354586.4:p.Pro1554Thr
ENST00000438299.5:c.*2544-16C>A	ENSP00000400593.1:n.*2544-16C>A
ENST00000445186.5:c.*3759C>A	ENSP00000397488.1:n.*3759C>A
ENST00000452319.5:c.4660C>A	ENSP00000390436.1:p.Pro1554Thr
ENST00000452692.5:c.*2493-16C>A	ENSP00000403715.1:n.*2493-16C>A
NM_005270.4:c.4660C>A	NP_005261.2:p.Pro1554Thr
XM_006712422.1:c.4609C>A	XP_006712485.1:p.Pro1537Thr
XM_011510969.1:c.4642C>A	XP_011509271.1:p.Pro1548Thr
XM_011510970.1:c.4519C>A	XP_011509272.1:p.Pro1507Thr
XM_011510971.1:c.4465C>A	XP_011509273.1:p.Pro1489Thr
XM_011510972.1:c.4465C>A	XP_011509274.1:p.Pro1489Thr
XM_011510973.1:c.4285C>A	XP_011509275.1:p.Pro1429Thr
XM_011510974.1:c.4234C>A	XP_011509276.1:p.Pro1412Thr
XM_006712422.3:c.4609C>A	XP_006712485.1:p.Pro1537Thr
XM_011510969.2:c.4912C>A	XP_011509271.2:p.Pro1638Thr
XM_011510970.2:c.4519C>A	XP_011509272.1:p.Pro1507Thr
XM_011510971.2:c.4465C>A	XP_011509273.1:p.Pro1489Thr
XM_011510972.2:c.4561C>A	XP_011509274.2:p.Pro1521Thr
XM_011510973.2:c.4285C>A	XP_011509275.1:p.Pro1429Thr
XM_011510974.2:c.4234C>A	XP_011509276.1:p.Pro1412Thr
XM_017003818.1:c.4861C>A	XP_016859307.1:p.Pro1621Thr
XM_024452794.1:c.4660C>A	XP_024308562.1:p.Pro1554Thr
XM_024452795.1:c.4660C>A	XP_024308563.1:p.Pro1554Thr
NM_001371271.1:c.4660C>A	NP_001358200.1:p.Pro1554Thr
NM_001374353.1:c.4609C>A MANE Select	NP_001361282.1:p.Pro1537Thr
NM_001374354.1:c.4234C>A	NP_001361283.1:p.Pro1412Thr
NM_005270.5:c.4660C>A	NP_005261.2:p.Pro1554Thr