Canonical Allele Identifier: CA348170980

Gene: GLI2

Linked Data

• gnomAD v4: 2-120988967-G-T
• MyVariant Identifiers: chr2:g.121746543G>T (hg19) ; chr2:g.120988967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988967G>T , CM000664.2:g.120988967G>T	GRCh38
NC_000002.11:g.121746543G>T , CM000664.1:g.121746543G>T	GRCh37
NC_000002.10:g.121463013G>T	NCBI36
NG_009030.1:g.196677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3002G>T MANE Select	ENSP00000354586.5:p.Gly1001Val
ENST00000452319.6:c.3053G>T	ENSP00000390436.1:p.Gly1018Val
ENST00000341310.10:c.*2101G>T	ENSP00000344473.6:n.*2101G>T
ENST00000361492.8:c.3053G>T	ENSP00000354586.4:p.Gly1018Val
ENST00000438299.5:c.*2152G>T	ENSP00000400593.1:n.*2152G>T
ENST00000445186.5:c.*2152G>T	ENSP00000397488.1:n.*2152G>T
ENST00000452319.5:c.3053G>T	ENSP00000390436.1:p.Gly1018Val
ENST00000452692.5:c.*2101G>T	ENSP00000403715.1:n.*2101G>T
NM_005270.4:c.3053G>T	NP_005261.2:p.Gly1018Val
XM_006712422.1:c.3002G>T	XP_006712485.1:p.Gly1001Val
XM_011510969.1:c.3035G>T	XP_011509271.1:p.Gly1012Val
XM_011510970.1:c.2912G>T	XP_011509272.1:p.Gly971Val
XM_011510971.1:c.2858G>T	XP_011509273.1:p.Gly953Val
XM_011510972.1:c.2858G>T	XP_011509274.1:p.Gly953Val
XM_011510973.1:c.2678G>T	XP_011509275.1:p.Gly893Val
XM_011510974.1:c.2627G>T	XP_011509276.1:p.Gly876Val
XM_006712422.3:c.3002G>T	XP_006712485.1:p.Gly1001Val
XM_011510969.2:c.3305G>T	XP_011509271.2:p.Gly1102Val
XM_011510970.2:c.2912G>T	XP_011509272.1:p.Gly971Val
XM_011510971.2:c.2858G>T	XP_011509273.1:p.Gly953Val
XM_011510972.2:c.2954G>T	XP_011509274.2:p.Gly985Val
XM_011510973.2:c.2678G>T	XP_011509275.1:p.Gly893Val
XM_011510974.2:c.2627G>T	XP_011509276.1:p.Gly876Val
XM_017003818.1:c.3254G>T	XP_016859307.1:p.Gly1085Val
XM_024452794.1:c.3053G>T	XP_024308562.1:p.Gly1018Val
XM_024452795.1:c.3053G>T	XP_024308563.1:p.Gly1018Val
NM_001371271.1:c.3053G>T	NP_001358200.1:p.Gly1018Val
NM_001374353.1:c.3002G>T MANE Select	NP_001361282.1:p.Gly1001Val
NM_001374354.1:c.2627G>T	NP_001361283.1:p.Gly876Val
NM_005270.5:c.3053G>T	NP_005261.2:p.Gly1018Val