Canonical Allele Identifier: CA2499214959

Gene: GLI2

Linked Data

• ClinVar Variation Id: 1186524
• ClinVar RCV Id: RCV001545638
• dbSNP Id: rs2105051287

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978572_120978573delinsTT , CM000664.2:g.120978572_120978573delinsTT	GRCh38
NC_000002.11:g.121736148_121736149delinsTT , CM000664.1:g.121736148_121736149delinsTT	GRCh37
NC_000002.10:g.121452618_121452619delinsTT	NCBI36
NG_009030.1:g.186282_186283delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1456_1457delinsTT MANE Select	ENSP00000354586.5:p.His486Phe
ENST00000452319.6:c.1507_1508delinsTT	ENSP00000390436.1:p.His503Phe
ENST00000314490.15:c.520_521delinsTT	ENSP00000312694.12:p.His174Phe
ENST00000341310.10:c.*555_*556delinsTT	ENSP00000344473.6:n.*555_*556delinsTT
ENST00000361492.8:c.1507_1508delinsTT	ENSP00000354586.4:p.His503Phe
ENST00000435313.6:n.1481_1482delinsTT
ENST00000437950.5:c.*606_*607delinsTT	ENSP00000415773.1:n.*606_*607delinsTT
ENST00000438299.5:c.*606_*607delinsTT	ENSP00000400593.1:n.*606_*607delinsTT
ENST00000445186.5:c.*606_*607delinsTT	ENSP00000397488.1:n.*606_*607delinsTT
ENST00000452319.5:c.1507_1508delinsTT	ENSP00000390436.1:p.His503Phe
ENST00000452692.5:c.*555_*556delinsTT	ENSP00000403715.1:n.*555_*556delinsTT
NM_005270.4:c.1507_1508delinsTT	NP_005261.2:p.His503Phe
XM_006712422.1:c.1456_1457delinsTT	XP_006712485.1:p.His486Phe
XM_011510969.1:c.1489_1490delinsTT	XP_011509271.1:p.His497Phe
XM_011510970.1:c.1366_1367delinsTT	XP_011509272.1:p.His456Phe
XM_011510971.1:c.1312_1313delinsTT	XP_011509273.1:p.His438Phe
XM_011510972.1:c.1312_1313delinsTT	XP_011509274.1:p.His438Phe
XM_011510973.1:c.1132_1133delinsTT	XP_011509275.1:p.His378Phe
XM_011510974.1:c.1081_1082delinsTT	XP_011509276.1:p.His361Phe
XM_006712422.3:c.1456_1457delinsTT	XP_006712485.1:p.His486Phe
XM_011510969.2:c.1759_1760delinsTT	XP_011509271.2:p.His587Phe
XM_011510970.2:c.1366_1367delinsTT	XP_011509272.1:p.His456Phe
XM_011510971.2:c.1312_1313delinsTT	XP_011509273.1:p.His438Phe
XM_011510972.2:c.1408_1409delinsTT	XP_011509274.2:p.His470Phe
XM_011510973.2:c.1132_1133delinsTT	XP_011509275.1:p.His378Phe
XM_011510974.2:c.1081_1082delinsTT	XP_011509276.1:p.His361Phe
XM_017003818.1:c.1708_1709delinsTT	XP_016859307.1:p.His570Phe
XM_024452794.1:c.1507_1508delinsTT	XP_024308562.1:p.His503Phe
XM_024452795.1:c.1507_1508delinsTT	XP_024308563.1:p.His503Phe
NM_001371271.1:c.1507_1508delinsTT	NP_001358200.1:p.His503Phe
NM_001374353.1:c.1456_1457delinsTT MANE Select	NP_001361282.1:p.His486Phe
NM_001374354.1:c.1081_1082delinsTT	NP_001361283.1:p.His361Phe
NM_005270.5:c.1507_1508delinsTT	NP_005261.2:p.His503Phe