Canonical Allele Identifier: CA348180164

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748135A>G (hg19) ; chr2:g.120990559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990559A>G , CM000664.2:g.120990559A>G	GRCh38
NC_000002.11:g.121748135A>G , CM000664.1:g.121748135A>G	GRCh37
NC_000002.10:g.121464605A>G	NCBI36
NG_009030.1:g.198269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4594A>G MANE Select	ENSP00000354586.5:p.Asn1532Asp
ENST00000452319.6:c.4645A>G	ENSP00000390436.1:p.Asn1549Asp
ENST00000341310.10:c.*3693A>G	ENSP00000344473.6:n.*3693A>G
ENST00000361492.8:c.4645A>G	ENSP00000354586.4:p.Asn1549Asp
ENST00000438299.5:c.*2544-31A>G	ENSP00000400593.1:n.*2544-31A>G
ENST00000445186.5:c.*3744A>G	ENSP00000397488.1:n.*3744A>G
ENST00000452319.5:c.4645A>G	ENSP00000390436.1:p.Asn1549Asp
ENST00000452692.5:c.*2493-31A>G	ENSP00000403715.1:n.*2493-31A>G
NM_005270.4:c.4645A>G	NP_005261.2:p.Asn1549Asp
XM_006712422.1:c.4594A>G	XP_006712485.1:p.Asn1532Asp
XM_011510969.1:c.4627A>G	XP_011509271.1:p.Asn1543Asp
XM_011510970.1:c.4504A>G	XP_011509272.1:p.Asn1502Asp
XM_011510971.1:c.4450A>G	XP_011509273.1:p.Asn1484Asp
XM_011510972.1:c.4450A>G	XP_011509274.1:p.Asn1484Asp
XM_011510973.1:c.4270A>G	XP_011509275.1:p.Asn1424Asp
XM_011510974.1:c.4219A>G	XP_011509276.1:p.Asn1407Asp
XM_006712422.3:c.4594A>G	XP_006712485.1:p.Asn1532Asp
XM_011510969.2:c.4897A>G	XP_011509271.2:p.Asn1633Asp
XM_011510970.2:c.4504A>G	XP_011509272.1:p.Asn1502Asp
XM_011510971.2:c.4450A>G	XP_011509273.1:p.Asn1484Asp
XM_011510972.2:c.4546A>G	XP_011509274.2:p.Asn1516Asp
XM_011510973.2:c.4270A>G	XP_011509275.1:p.Asn1424Asp
XM_011510974.2:c.4219A>G	XP_011509276.1:p.Asn1407Asp
XM_017003818.1:c.4846A>G	XP_016859307.1:p.Asn1616Asp
XM_024452794.1:c.4645A>G	XP_024308562.1:p.Asn1549Asp
XM_024452795.1:c.4645A>G	XP_024308563.1:p.Asn1549Asp
NM_001371271.1:c.4645A>G	NP_001358200.1:p.Asn1549Asp
NM_001374353.1:c.4594A>G MANE Select	NP_001361282.1:p.Asn1532Asp
NM_001374354.1:c.4219A>G	NP_001361283.1:p.Asn1407Asp
NM_005270.5:c.4645A>G	NP_005261.2:p.Asn1549Asp