Canonical Allele Identifier: CA348172542

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746663A>T (hg19) ; chr2:g.120989087A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989087A>T , CM000664.2:g.120989087A>T	GRCh38
NC_000002.11:g.121746663A>T , CM000664.1:g.121746663A>T	GRCh37
NC_000002.10:g.121463133A>T	NCBI36
NG_009030.1:g.196797A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3122A>T MANE Select	ENSP00000354586.5:p.Asp1041Val
ENST00000452319.6:c.3173A>T	ENSP00000390436.1:p.Asp1058Val
ENST00000341310.10:c.*2221A>T	ENSP00000344473.6:n.*2221A>T
ENST00000361492.8:c.3173A>T	ENSP00000354586.4:p.Asp1058Val
ENST00000438299.5:c.*2272A>T	ENSP00000400593.1:n.*2272A>T
ENST00000445186.5:c.*2272A>T	ENSP00000397488.1:n.*2272A>T
ENST00000452319.5:c.3173A>T	ENSP00000390436.1:p.Asp1058Val
ENST00000452692.5:c.*2221A>T	ENSP00000403715.1:n.*2221A>T
NM_005270.4:c.3173A>T	NP_005261.2:p.Asp1058Val
XM_006712422.1:c.3122A>T	XP_006712485.1:p.Asp1041Val
XM_011510969.1:c.3155A>T	XP_011509271.1:p.Asp1052Val
XM_011510970.1:c.3032A>T	XP_011509272.1:p.Asp1011Val
XM_011510971.1:c.2978A>T	XP_011509273.1:p.Asp993Val
XM_011510972.1:c.2978A>T	XP_011509274.1:p.Asp993Val
XM_011510973.1:c.2798A>T	XP_011509275.1:p.Asp933Val
XM_011510974.1:c.2747A>T	XP_011509276.1:p.Asp916Val
XM_006712422.3:c.3122A>T	XP_006712485.1:p.Asp1041Val
XM_011510969.2:c.3425A>T	XP_011509271.2:p.Asp1142Val
XM_011510970.2:c.3032A>T	XP_011509272.1:p.Asp1011Val
XM_011510971.2:c.2978A>T	XP_011509273.1:p.Asp993Val
XM_011510972.2:c.3074A>T	XP_011509274.2:p.Asp1025Val
XM_011510973.2:c.2798A>T	XP_011509275.1:p.Asp933Val
XM_011510974.2:c.2747A>T	XP_011509276.1:p.Asp916Val
XM_017003818.1:c.3374A>T	XP_016859307.1:p.Asp1125Val
XM_024452794.1:c.3173A>T	XP_024308562.1:p.Asp1058Val
XM_024452795.1:c.3173A>T	XP_024308563.1:p.Asp1058Val
NM_001371271.1:c.3173A>T	NP_001358200.1:p.Asp1058Val
NM_001374353.1:c.3122A>T MANE Select	NP_001361282.1:p.Asp1041Val
NM_001374354.1:c.2747A>T	NP_001361283.1:p.Asp916Val
NM_005270.5:c.3173A>T	NP_005261.2:p.Asp1058Val