Canonical Allele Identifier: CA535600450

Gene: GLI2

Linked Data

• dbSNP Id: rs1311339142
• gnomAD v2: 2-121736166-G-GGCCT
• gnomAD v4: 2-120978590-G-GGCCT
• MyVariant Identifiers: chr2:g.121736166_121736167insGCCT (hg19) ; chr2:g.120978590_120978591insGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978591_120978594dup , CM000664.2:g.120978591_120978594dup	GRCh38
NC_000002.11:g.121736167_121736170dup , CM000664.1:g.121736167_121736170dup	GRCh37
NC_000002.10:g.121452637_121452640dup	NCBI36
NG_009030.1:g.186301_186304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1467+8_1467+11dup MANE Select	ENSP00000354586.5:n.1467+8_1467+11dup
ENST00000452319.6:c.1518+8_1518+11dup	ENSP00000390436.1:n.1518+8_1518+11dup
ENST00000314490.15:c.531+8_531+11dup	ENSP00000312694.12:n.531+8_531+11dup
ENST00000341310.10:c.*566+8_*566+11dup	ENSP00000344473.6:n.*566+8_*566+11dup
ENST00000361492.8:c.1518+8_1518+11dup	ENSP00000354586.4:n.1518+8_1518+11dup
ENST00000435313.6:n.1492+8_1492+11dup
ENST00000437950.5:c.*617+8_*617+11dup	ENSP00000415773.1:n.*617+8_*617+11dup
ENST00000438299.5:c.*617+8_*617+11dup	ENSP00000400593.1:n.*617+8_*617+11dup
ENST00000445186.5:c.*617+8_*617+11dup	ENSP00000397488.1:n.*617+8_*617+11dup
ENST00000452319.5:c.1518+8_1518+11dup	ENSP00000390436.1:n.1518+8_1518+11dup
ENST00000452692.5:c.*566+8_*566+11dup	ENSP00000403715.1:n.*566+8_*566+11dup
NM_005270.4:c.1518+8_1518+11dup	NP_005261.2:n.1518+8_1518+11dup
XM_006712422.1:c.1467+8_1467+11dup	XP_006712485.1:n.1467+8_1467+11dup
XM_011510969.1:c.1500+8_1500+11dup	XP_011509271.1:n.1500+8_1500+11dup
XM_011510970.1:c.1377+8_1377+11dup	XP_011509272.1:n.1377+8_1377+11dup
XM_011510971.1:c.1323+8_1323+11dup	XP_011509273.1:n.1323+8_1323+11dup
XM_011510972.1:c.1323+8_1323+11dup	XP_011509274.1:n.1323+8_1323+11dup
XM_011510973.1:c.1143+8_1143+11dup	XP_011509275.1:n.1143+8_1143+11dup
XM_011510974.1:c.1092+8_1092+11dup	XP_011509276.1:n.1092+8_1092+11dup
XM_006712422.3:c.1467+8_1467+11dup	XP_006712485.1:n.1467+8_1467+11dup
XM_011510969.2:c.1770+8_1770+11dup	XP_011509271.2:n.1770+8_1770+11dup
XM_011510970.2:c.1377+8_1377+11dup	XP_011509272.1:n.1377+8_1377+11dup
XM_011510971.2:c.1323+8_1323+11dup	XP_011509273.1:n.1323+8_1323+11dup
XM_011510972.2:c.1419+8_1419+11dup	XP_011509274.2:n.1419+8_1419+11dup
XM_011510973.2:c.1143+8_1143+11dup	XP_011509275.1:n.1143+8_1143+11dup
XM_011510974.2:c.1092+8_1092+11dup	XP_011509276.1:n.1092+8_1092+11dup
XM_017003818.1:c.1719+8_1719+11dup	XP_016859307.1:n.1719+8_1719+11dup
XM_024452794.1:c.1518+8_1518+11dup	XP_024308562.1:n.1518+8_1518+11dup
XM_024452795.1:c.1518+8_1518+11dup	XP_024308563.1:n.1518+8_1518+11dup
NM_001371271.1:c.1518+8_1518+11dup	NP_001358200.1:n.1518+8_1518+11dup
NM_001374353.1:c.1467+8_1467+11dup MANE Select	NP_001361282.1:n.1467+8_1467+11dup
NM_001374354.1:c.1092+8_1092+11dup	NP_001361283.1:n.1092+8_1092+11dup
NM_005270.5:c.1518+8_1518+11dup	NP_005261.2:n.1518+8_1518+11dup