Canonical Allele Identifier: CA535600442

Gene: GLI2

Linked Data

• dbSNP Id: rs1343352407
• gnomAD v2: 2-121735952-GGGT-G
• gnomAD v4: 2-120978376-GGGT-G
• MyVariant Identifiers: chr2:g.121735953_121735955del (hg19) ; chr2:g.120978377_120978379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978380_120978382del , CM000664.2:g.120978380_120978382del	GRCh38
NC_000002.11:g.121735956_121735958del , CM000664.1:g.121735956_121735958del	GRCh37
NC_000002.10:g.121452426_121452428del	NCBI36
NG_009030.1:g.186090_186092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1318-54_1318-52del MANE Select	ENSP00000354586.5:n.1318-54_1318-52del
ENST00000452319.6:c.1369-54_1369-52del	ENSP00000390436.1:n.1369-54_1369-52del
ENST00000314490.15:c.382-54_382-52del	ENSP00000312694.12:n.382-54_382-52del
ENST00000341310.10:c.*417-54_*417-52del	ENSP00000344473.6:n.*417-54_*417-52del
ENST00000361492.8:c.1369-54_1369-52del	ENSP00000354586.4:n.1369-54_1369-52del
ENST00000435313.6:n.1343-54_1343-52del
ENST00000437950.5:c.*468-54_*468-52del	ENSP00000415773.1:n.*468-54_*468-52del
ENST00000438299.5:c.*468-54_*468-52del	ENSP00000400593.1:n.*468-54_*468-52del
ENST00000445186.5:c.*468-54_*468-52del	ENSP00000397488.1:n.*468-54_*468-52del
ENST00000452319.5:c.1369-54_1369-52del	ENSP00000390436.1:n.1369-54_1369-52del
ENST00000452692.5:c.*417-54_*417-52del	ENSP00000403715.1:n.*417-54_*417-52del
NM_005270.4:c.1369-54_1369-52del	NP_005261.2:n.1369-54_1369-52del
XM_006712422.1:c.1318-54_1318-52del	XP_006712485.1:n.1318-54_1318-52del
XM_011510969.1:c.1351-54_1351-52del	XP_011509271.1:n.1351-54_1351-52del
XM_011510970.1:c.1228-54_1228-52del	XP_011509272.1:n.1228-54_1228-52del
XM_011510971.1:c.1174-54_1174-52del	XP_011509273.1:n.1174-54_1174-52del
XM_011510972.1:c.1174-54_1174-52del	XP_011509274.1:n.1174-54_1174-52del
XM_011510973.1:c.994-54_994-52del	XP_011509275.1:n.994-54_994-52del
XM_011510974.1:c.943-54_943-52del	XP_011509276.1:n.943-54_943-52del
XM_006712422.3:c.1318-54_1318-52del	XP_006712485.1:n.1318-54_1318-52del
XM_011510969.2:c.1621-54_1621-52del	XP_011509271.2:n.1621-54_1621-52del
XM_011510970.2:c.1228-54_1228-52del	XP_011509272.1:n.1228-54_1228-52del
XM_011510971.2:c.1174-54_1174-52del	XP_011509273.1:n.1174-54_1174-52del
XM_011510972.2:c.1270-54_1270-52del	XP_011509274.2:n.1270-54_1270-52del
XM_011510973.2:c.994-54_994-52del	XP_011509275.1:n.994-54_994-52del
XM_011510974.2:c.943-54_943-52del	XP_011509276.1:n.943-54_943-52del
XM_017003818.1:c.1570-54_1570-52del	XP_016859307.1:n.1570-54_1570-52del
XM_024452794.1:c.1369-54_1369-52del	XP_024308562.1:n.1369-54_1369-52del
XM_024452795.1:c.1369-54_1369-52del	XP_024308563.1:n.1369-54_1369-52del
NM_001371271.1:c.1369-54_1369-52del	NP_001358200.1:n.1369-54_1369-52del
NM_001374353.1:c.1318-54_1318-52del MANE Select	NP_001361282.1:n.1318-54_1318-52del
NM_001374354.1:c.943-54_943-52del	NP_001361283.1:n.943-54_943-52del
NM_005270.5:c.1369-54_1369-52del	NP_005261.2:n.1369-54_1369-52del