Canonical Allele Identifier: CA348172516

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746660A>C (hg19) ; chr2:g.120989084A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989084A>C , CM000664.2:g.120989084A>C	GRCh38
NC_000002.11:g.121746660A>C , CM000664.1:g.121746660A>C	GRCh37
NC_000002.10:g.121463130A>C	NCBI36
NG_009030.1:g.196794A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3119A>C MANE Select	ENSP00000354586.5:p.Glu1040Ala
ENST00000452319.6:c.3170A>C	ENSP00000390436.1:p.Glu1057Ala
ENST00000341310.10:c.*2218A>C	ENSP00000344473.6:n.*2218A>C
ENST00000361492.8:c.3170A>C	ENSP00000354586.4:p.Glu1057Ala
ENST00000438299.5:c.*2269A>C	ENSP00000400593.1:n.*2269A>C
ENST00000445186.5:c.*2269A>C	ENSP00000397488.1:n.*2269A>C
ENST00000452319.5:c.3170A>C	ENSP00000390436.1:p.Glu1057Ala
ENST00000452692.5:c.*2218A>C	ENSP00000403715.1:n.*2218A>C
NM_005270.4:c.3170A>C	NP_005261.2:p.Glu1057Ala
XM_006712422.1:c.3119A>C	XP_006712485.1:p.Glu1040Ala
XM_011510969.1:c.3152A>C	XP_011509271.1:p.Glu1051Ala
XM_011510970.1:c.3029A>C	XP_011509272.1:p.Glu1010Ala
XM_011510971.1:c.2975A>C	XP_011509273.1:p.Glu992Ala
XM_011510972.1:c.2975A>C	XP_011509274.1:p.Glu992Ala
XM_011510973.1:c.2795A>C	XP_011509275.1:p.Glu932Ala
XM_011510974.1:c.2744A>C	XP_011509276.1:p.Glu915Ala
XM_006712422.3:c.3119A>C	XP_006712485.1:p.Glu1040Ala
XM_011510969.2:c.3422A>C	XP_011509271.2:p.Glu1141Ala
XM_011510970.2:c.3029A>C	XP_011509272.1:p.Glu1010Ala
XM_011510971.2:c.2975A>C	XP_011509273.1:p.Glu992Ala
XM_011510972.2:c.3071A>C	XP_011509274.2:p.Glu1024Ala
XM_011510973.2:c.2795A>C	XP_011509275.1:p.Glu932Ala
XM_011510974.2:c.2744A>C	XP_011509276.1:p.Glu915Ala
XM_017003818.1:c.3371A>C	XP_016859307.1:p.Glu1124Ala
XM_024452794.1:c.3170A>C	XP_024308562.1:p.Glu1057Ala
XM_024452795.1:c.3170A>C	XP_024308563.1:p.Glu1057Ala
NM_001371271.1:c.3170A>C	NP_001358200.1:p.Glu1057Ala
NM_001374353.1:c.3119A>C MANE Select	NP_001361282.1:p.Glu1040Ala
NM_001374354.1:c.2744A>C	NP_001361283.1:p.Glu915Ala
NM_005270.5:c.3170A>C	NP_005261.2:p.Glu1057Ala