Canonical Allele Identifier: CA756041296

Gene: GLI2

Linked Data

• dbSNP Id: rs1251543877
• gnomAD v3: 2-120978039-A-ATCACTGTTTGTGAT
• gnomAD v4: 2-120978039-A-ATCACTGTTTGTGAT
• MyVariant Identifiers: chr2:g.121735615_121735616insTCACTGTTTGTGAT (hg19) ; chr2:g.120978039_120978040insTCACTGTTTGTGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978039_120978040insTCACTGTTTGTGAT , CM000664.2:g.120978039_120978040insTCACTGTTTGTGAT	GRCh38
NC_000002.11:g.121735615_121735616insTCACTGTTTGTGAT , CM000664.1:g.121735615_121735616insTCACTGTTTGTGAT	GRCh37
NC_000002.10:g.121452085_121452086insTCACTGTTTGTGAT	NCBI36
NG_009030.1:g.185749_185750insTCACTGTTTGTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1318-395_1318-394insTCACTGTTTGTGAT MANE Select	ENSP00000354586.5:n.1318-395_1318-394insTCACTGTTTGTGAT
ENST00000452319.6:c.1369-395_1369-394insTCACTGTTTGTGAT	ENSP00000390436.1:n.1369-395_1369-394insTCACTGTTTGTGAT
ENST00000314490.15:c.382-395_382-394insTCACTGTTTGTGAT	ENSP00000312694.12:n.382-395_382-394insTCACTGTTTGTGAT
ENST00000341310.10:c.*417-395_*417-394insTCACTGTTTGTGAT	ENSP00000344473.6:n.*417-395_*417-394insTCACTGTTTGTGAT
ENST00000361492.8:c.1369-395_1369-394insTCACTGTTTGTGAT	ENSP00000354586.4:n.1369-395_1369-394insTCACTGTTTGTGAT
ENST00000435313.6:n.1343-395_1343-394insTCACTGTTTGTGAT
ENST00000437950.5:c.*468-395_*468-394insTCACTGTTTGTGAT	ENSP00000415773.1:n.*468-395_*468-394insTCACTGTTTGTGAT
ENST00000438299.5:c.*468-395_*468-394insTCACTGTTTGTGAT	ENSP00000400593.1:n.*468-395_*468-394insTCACTGTTTGTGAT
ENST00000445186.5:c.*468-395_*468-394insTCACTGTTTGTGAT	ENSP00000397488.1:n.*468-395_*468-394insTCACTGTTTGTGAT
ENST00000452319.5:c.1369-395_1369-394insTCACTGTTTGTGAT	ENSP00000390436.1:n.1369-395_1369-394insTCACTGTTTGTGAT
ENST00000452692.5:c.*417-395_*417-394insTCACTGTTTGTGAT	ENSP00000403715.1:n.*417-395_*417-394insTCACTGTTTGTGAT
NM_005270.4:c.1369-395_1369-394insTCACTGTTTGTGAT	NP_005261.2:n.1369-395_1369-394insTCACTGTTTGTGAT
XM_006712422.1:c.1318-395_1318-394insTCACTGTTTGTGAT	XP_006712485.1:n.1318-395_1318-394insTCACTGTTTGTGAT
XM_011510969.1:c.1351-395_1351-394insTCACTGTTTGTGAT	XP_011509271.1:n.1351-395_1351-394insTCACTGTTTGTGAT
XM_011510970.1:c.1228-395_1228-394insTCACTGTTTGTGAT	XP_011509272.1:n.1228-395_1228-394insTCACTGTTTGTGAT
XM_011510971.1:c.1174-395_1174-394insTCACTGTTTGTGAT	XP_011509273.1:n.1174-395_1174-394insTCACTGTTTGTGAT
XM_011510972.1:c.1174-395_1174-394insTCACTGTTTGTGAT	XP_011509274.1:n.1174-395_1174-394insTCACTGTTTGTGAT
XM_011510973.1:c.994-395_994-394insTCACTGTTTGTGAT	XP_011509275.1:n.994-395_994-394insTCACTGTTTGTGAT
XM_011510974.1:c.943-395_943-394insTCACTGTTTGTGAT	XP_011509276.1:n.943-395_943-394insTCACTGTTTGTGAT
XM_006712422.3:c.1318-395_1318-394insTCACTGTTTGTGAT	XP_006712485.1:n.1318-395_1318-394insTCACTGTTTGTGAT
XM_011510969.2:c.1621-395_1621-394insTCACTGTTTGTGAT	XP_011509271.2:n.1621-395_1621-394insTCACTGTTTGTGAT
XM_011510970.2:c.1228-395_1228-394insTCACTGTTTGTGAT	XP_011509272.1:n.1228-395_1228-394insTCACTGTTTGTGAT
XM_011510971.2:c.1174-395_1174-394insTCACTGTTTGTGAT	XP_011509273.1:n.1174-395_1174-394insTCACTGTTTGTGAT
XM_011510972.2:c.1270-395_1270-394insTCACTGTTTGTGAT	XP_011509274.2:n.1270-395_1270-394insTCACTGTTTGTGAT
XM_011510973.2:c.994-395_994-394insTCACTGTTTGTGAT	XP_011509275.1:n.994-395_994-394insTCACTGTTTGTGAT
XM_011510974.2:c.943-395_943-394insTCACTGTTTGTGAT	XP_011509276.1:n.943-395_943-394insTCACTGTTTGTGAT
XM_017003818.1:c.1570-395_1570-394insTCACTGTTTGTGAT	XP_016859307.1:n.1570-395_1570-394insTCACTGTTTGTGAT
XM_024452794.1:c.1369-395_1369-394insTCACTGTTTGTGAT	XP_024308562.1:n.1369-395_1369-394insTCACTGTTTGTGAT
XM_024452795.1:c.1369-395_1369-394insTCACTGTTTGTGAT	XP_024308563.1:n.1369-395_1369-394insTCACTGTTTGTGAT
NM_001371271.1:c.1369-395_1369-394insTCACTGTTTGTGAT	NP_001358200.1:n.1369-395_1369-394insTCACTGTTTGTGAT
NM_001374353.1:c.1318-395_1318-394insTCACTGTTTGTGAT MANE Select	NP_001361282.1:n.1318-395_1318-394insTCACTGTTTGTGAT
NM_001374354.1:c.943-395_943-394insTCACTGTTTGTGAT	NP_001361283.1:n.943-395_943-394insTCACTGTTTGTGAT
NM_005270.5:c.1369-395_1369-394insTCACTGTTTGTGAT	NP_005261.2:n.1369-395_1369-394insTCACTGTTTGTGAT