Canonical Allele Identifier: CA348180275

Gene: GLI2

Linked Data

• dbSNP Id: rs1683256324
• MyVariant Identifiers: chr2:g.121748189G>A (hg19) ; chr2:g.120990613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990613G>A , CM000664.2:g.120990613G>A	GRCh38
NC_000002.11:g.121748189G>A , CM000664.1:g.121748189G>A	GRCh37
NC_000002.10:g.121464659G>A	NCBI36
NG_009030.1:g.198323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4648G>A MANE Select	ENSP00000354586.5:p.Asp1550Asn
ENST00000452319.6:c.4699G>A	ENSP00000390436.1:p.Asp1567Asn
ENST00000341310.10:c.*3747G>A	ENSP00000344473.6:n.*3747G>A
ENST00000361492.8:c.4699G>A	ENSP00000354586.4:p.Asp1567Asn
ENST00000438299.5:c.*2567G>A	ENSP00000400593.1:n.*2567G>A
ENST00000445186.5:c.*3798G>A	ENSP00000397488.1:n.*3798G>A
ENST00000452319.5:c.4699G>A	ENSP00000390436.1:p.Asp1567Asn
ENST00000452692.5:c.*2516G>A	ENSP00000403715.1:n.*2516G>A
NM_005270.4:c.4699G>A	NP_005261.2:p.Asp1567Asn
XM_006712422.1:c.4648G>A	XP_006712485.1:p.Asp1550Asn
XM_011510969.1:c.4681G>A	XP_011509271.1:p.Asp1561Asn
XM_011510970.1:c.4558G>A	XP_011509272.1:p.Asp1520Asn
XM_011510971.1:c.4504G>A	XP_011509273.1:p.Asp1502Asn
XM_011510972.1:c.4504G>A	XP_011509274.1:p.Asp1502Asn
XM_011510973.1:c.4324G>A	XP_011509275.1:p.Asp1442Asn
XM_011510974.1:c.4273G>A	XP_011509276.1:p.Asp1425Asn
XM_006712422.3:c.4648G>A	XP_006712485.1:p.Asp1550Asn
XM_011510969.2:c.4951G>A	XP_011509271.2:p.Asp1651Asn
XM_011510970.2:c.4558G>A	XP_011509272.1:p.Asp1520Asn
XM_011510971.2:c.4504G>A	XP_011509273.1:p.Asp1502Asn
XM_011510972.2:c.4600G>A	XP_011509274.2:p.Asp1534Asn
XM_011510973.2:c.4324G>A	XP_011509275.1:p.Asp1442Asn
XM_011510974.2:c.4273G>A	XP_011509276.1:p.Asp1425Asn
XM_017003818.1:c.4900G>A	XP_016859307.1:p.Asp1634Asn
XM_024452794.1:c.4699G>A	XP_024308562.1:p.Asp1567Asn
XM_024452795.1:c.4699G>A	XP_024308563.1:p.Asp1567Asn
NM_001371271.1:c.4699G>A	NP_001358200.1:p.Asp1567Asn
NM_001374353.1:c.4648G>A MANE Select	NP_001361282.1:p.Asp1550Asn
NM_001374354.1:c.4273G>A	NP_001361283.1:p.Asp1425Asn
NM_005270.5:c.4699G>A	NP_005261.2:p.Asp1567Asn