Canonical Allele Identifier: CA348161633

Gene: GLI2

Linked Data

• dbSNP Id: rs1413032761
• gnomAD v4: 2-120978552-G-A
• COSMIC: COSM3565903
• MyVariant Identifiers: chr2:g.121736128G>A (hg19) ; chr2:g.120978552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978552G>A , CM000664.2:g.120978552G>A	GRCh38
NC_000002.11:g.121736128G>A , CM000664.1:g.121736128G>A	GRCh37
NC_000002.10:g.121452598G>A	NCBI36
NG_009030.1:g.186262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1436G>A MANE Select	ENSP00000354586.5:p.Arg479Gln
ENST00000452319.6:c.1487G>A	ENSP00000390436.1:p.Arg496Gln
ENST00000314490.15:c.500G>A	ENSP00000312694.12:p.Arg167Gln
ENST00000341310.10:c.*535G>A	ENSP00000344473.6:n.*535G>A
ENST00000361492.8:c.1487G>A	ENSP00000354586.4:p.Arg496Gln
ENST00000435313.6:n.1461G>A
ENST00000437950.5:c.*586G>A	ENSP00000415773.1:n.*586G>A
ENST00000438299.5:c.*586G>A	ENSP00000400593.1:n.*586G>A
ENST00000445186.5:c.*586G>A	ENSP00000397488.1:n.*586G>A
ENST00000452319.5:c.1487G>A	ENSP00000390436.1:p.Arg496Gln
ENST00000452692.5:c.*535G>A	ENSP00000403715.1:n.*535G>A
NM_005270.4:c.1487G>A	NP_005261.2:p.Arg496Gln
XM_006712422.1:c.1436G>A	XP_006712485.1:p.Arg479Gln
XM_011510969.1:c.1469G>A	XP_011509271.1:p.Arg490Gln
XM_011510970.1:c.1346G>A	XP_011509272.1:p.Arg449Gln
XM_011510971.1:c.1292G>A	XP_011509273.1:p.Arg431Gln
XM_011510972.1:c.1292G>A	XP_011509274.1:p.Arg431Gln
XM_011510973.1:c.1112G>A	XP_011509275.1:p.Arg371Gln
XM_011510974.1:c.1061G>A	XP_011509276.1:p.Arg354Gln
XM_006712422.3:c.1436G>A	XP_006712485.1:p.Arg479Gln
XM_011510969.2:c.1739G>A	XP_011509271.2:p.Arg580Gln
XM_011510970.2:c.1346G>A	XP_011509272.1:p.Arg449Gln
XM_011510971.2:c.1292G>A	XP_011509273.1:p.Arg431Gln
XM_011510972.2:c.1388G>A	XP_011509274.2:p.Arg463Gln
XM_011510973.2:c.1112G>A	XP_011509275.1:p.Arg371Gln
XM_011510974.2:c.1061G>A	XP_011509276.1:p.Arg354Gln
XM_017003818.1:c.1688G>A	XP_016859307.1:p.Arg563Gln
XM_024452794.1:c.1487G>A	XP_024308562.1:p.Arg496Gln
XM_024452795.1:c.1487G>A	XP_024308563.1:p.Arg496Gln
NM_001371271.1:c.1487G>A	NP_001358200.1:p.Arg496Gln
NM_001374353.1:c.1436G>A MANE Select	NP_001361282.1:p.Arg479Gln
NM_001374354.1:c.1061G>A	NP_001361283.1:p.Arg354Gln
NM_005270.5:c.1487G>A	NP_005261.2:p.Arg496Gln