Canonical Allele Identifier: CA348180539

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990671-C-T
• MyVariant Identifiers: chr2:g.121748247C>T (hg19) ; chr2:g.120990671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990671C>T , CM000664.2:g.120990671C>T	GRCh38
NC_000002.11:g.121748247C>T , CM000664.1:g.121748247C>T	GRCh37
NC_000002.10:g.121464717C>T	NCBI36
NG_009030.1:g.198381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4706C>T MANE Select	ENSP00000354586.5:p.Thr1569Ile
ENST00000452319.6:c.4757C>T	ENSP00000390436.1:p.Thr1586Ile
ENST00000341310.10:c.*3805C>T	ENSP00000344473.6:n.*3805C>T
ENST00000361492.8:c.4757C>T	ENSP00000354586.4:p.Thr1586Ile
ENST00000438299.5:c.*2625C>T	ENSP00000400593.1:n.*2625C>T
ENST00000445186.5:c.*3856C>T	ENSP00000397488.1:n.*3856C>T
ENST00000452319.5:c.4757C>T	ENSP00000390436.1:p.Thr1586Ile
ENST00000452692.5:c.*2574C>T	ENSP00000403715.1:n.*2574C>T
NM_005270.4:c.4757C>T	NP_005261.2:p.Thr1586Ile
XM_006712422.1:c.4706C>T	XP_006712485.1:p.Thr1569Ile
XM_011510969.1:c.4739C>T	XP_011509271.1:p.Thr1580Ile
XM_011510970.1:c.4616C>T	XP_011509272.1:p.Thr1539Ile
XM_011510971.1:c.4562C>T	XP_011509273.1:p.Thr1521Ile
XM_011510972.1:c.4562C>T	XP_011509274.1:p.Thr1521Ile
XM_011510973.1:c.4382C>T	XP_011509275.1:p.Thr1461Ile
XM_011510974.1:c.4331C>T	XP_011509276.1:p.Thr1444Ile
XM_006712422.3:c.4706C>T	XP_006712485.1:p.Thr1569Ile
XM_011510969.2:c.5009C>T	XP_011509271.2:p.Thr1670Ile
XM_011510970.2:c.4616C>T	XP_011509272.1:p.Thr1539Ile
XM_011510971.2:c.4562C>T	XP_011509273.1:p.Thr1521Ile
XM_011510972.2:c.4658C>T	XP_011509274.2:p.Thr1553Ile
XM_011510973.2:c.4382C>T	XP_011509275.1:p.Thr1461Ile
XM_011510974.2:c.4331C>T	XP_011509276.1:p.Thr1444Ile
XM_017003818.1:c.4958C>T	XP_016859307.1:p.Thr1653Ile
XM_024452794.1:c.4757C>T	XP_024308562.1:p.Thr1586Ile
XM_024452795.1:c.4757C>T	XP_024308563.1:p.Thr1586Ile
NM_001371271.1:c.4757C>T	NP_001358200.1:p.Thr1586Ile
NM_001374353.1:c.4706C>T MANE Select	NP_001361282.1:p.Thr1569Ile
NM_001374354.1:c.4331C>T	NP_001361283.1:p.Thr1444Ile
NM_005270.5:c.4757C>T	NP_005261.2:p.Thr1586Ile