Canonical Allele Identifier: CA16043647
Gene: GLI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374313
ClinVar RCV Id: RCV000414993
dbSNP Id: rs1057518689

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120989175dup , CM000664.2:g.120989175dup GRCh38
NC_000002.11:g.121746751dup , CM000664.1:g.121746751dup GRCh37
NC_000002.10:g.121463221dup NCBI36
NG_009030.1:g.196885dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.3210dup MANE Select ENSP00000354586.5:p.Thr1071HisfsTer8
ENST00000452319.6:c.3261dup ENSP00000390436.1:p.Thr1088HisfsTer8
ENST00000341310.10:c.*2309dup ENSP00000344473.6:n.*2309dup
ENST00000361492.8:c.3261dup ENSP00000354586.4:p.Thr1088HisfsTer8
ENST00000438299.5:c.*2360dup ENSP00000400593.1:n.*2360dup
ENST00000445186.5:c.*2360dup ENSP00000397488.1:n.*2360dup
ENST00000452319.5:c.3261dup ENSP00000390436.1:p.Thr1088HisfsTer8
ENST00000452692.5:c.*2309dup ENSP00000403715.1:n.*2309dup
NM_005270.4:c.3261dup NP_005261.2:p.Thr1088HisfsTer8
XM_006712422.1:c.3210dup XP_006712485.1:p.Thr1071HisfsTer8
XM_011510969.1:c.3243dup XP_011509271.1:p.Thr1082HisfsTer8
XM_011510970.1:c.3120dup XP_011509272.1:p.Thr1041HisfsTer8
XM_011510971.1:c.3066dup XP_011509273.1:p.Thr1023HisfsTer8
XM_011510972.1:c.3066dup XP_011509274.1:p.Thr1023HisfsTer8
XM_011510973.1:c.2886dup XP_011509275.1:p.Thr963HisfsTer8
XM_011510974.1:c.2835dup XP_011509276.1:p.Thr946HisfsTer8
XM_006712422.3:c.3210dup XP_006712485.1:p.Thr1071HisfsTer8
XM_011510969.2:c.3513dup XP_011509271.2:p.Thr1172HisfsTer8
XM_011510970.2:c.3120dup XP_011509272.1:p.Thr1041HisfsTer8
XM_011510971.2:c.3066dup XP_011509273.1:p.Thr1023HisfsTer8
XM_011510972.2:c.3162dup XP_011509274.2:p.Thr1055HisfsTer8
XM_011510973.2:c.2886dup XP_011509275.1:p.Thr963HisfsTer8
XM_011510974.2:c.2835dup XP_011509276.1:p.Thr946HisfsTer8
XM_017003818.1:c.3462dup XP_016859307.1:p.Thr1155HisfsTer8
XM_024452794.1:c.3261dup XP_024308562.1:p.Thr1088HisfsTer8
XM_024452795.1:c.3261dup XP_024308563.1:p.Thr1088HisfsTer8
NM_001371271.1:c.3261dup NP_001358200.1:p.Thr1088HisfsTer8
NM_001374353.1:c.3210dup MANE Select NP_001361282.1:p.Thr1071HisfsTer8
NM_001374354.1:c.2835dup NP_001361283.1:p.Thr946HisfsTer8
NM_005270.5:c.3261dup NP_005261.2:p.Thr1088HisfsTer8