Canonical Allele Identifier: CA428229921
Gene: GLI2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.121736054G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978478G>T , CM000664.2:g.120978478G>T GRCh38
NC_000002.11:g.121736054G>T , CM000664.1:g.121736054G>T GRCh37
NC_000002.10:g.121452524G>T NCBI36
NG_009030.1:g.186188G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1362G>T MANE Select ENSP00000354586.5:p.Val454=
ENST00000452319.6:c.1413G>T ENSP00000390436.1:p.Val471=
ENST00000314490.15:c.426G>T ENSP00000312694.12:p.Val142=
ENST00000341310.10:c.*461G>T ENSP00000344473.6:n.*461G>T
ENST00000361492.8:c.1413G>T ENSP00000354586.4:p.Val471=
ENST00000435313.6:n.1387G>T
ENST00000437950.5:c.*512G>T ENSP00000415773.1:n.*512G>T
ENST00000438299.5:c.*512G>T ENSP00000400593.1:n.*512G>T
ENST00000445186.5:c.*512G>T ENSP00000397488.1:n.*512G>T
ENST00000452319.5:c.1413G>T ENSP00000390436.1:p.Val471=
ENST00000452692.5:c.*461G>T ENSP00000403715.1:n.*461G>T
NM_005270.4:c.1413G>T NP_005261.2:p.Val471=
XM_006712422.1:c.1362G>T XP_006712485.1:p.Val454=
XM_011510969.1:c.1395G>T XP_011509271.1:p.Val465=
XM_011510970.1:c.1272G>T XP_011509272.1:p.Val424=
XM_011510971.1:c.1218G>T XP_011509273.1:p.Val406=
XM_011510972.1:c.1218G>T XP_011509274.1:p.Val406=
XM_011510973.1:c.1038G>T XP_011509275.1:p.Val346=
XM_011510974.1:c.987G>T XP_011509276.1:p.Val329=
XM_006712422.3:c.1362G>T XP_006712485.1:p.Val454=
XM_011510969.2:c.1665G>T XP_011509271.2:p.Val555=
XM_011510970.2:c.1272G>T XP_011509272.1:p.Val424=
XM_011510971.2:c.1218G>T XP_011509273.1:p.Val406=
XM_011510972.2:c.1314G>T XP_011509274.2:p.Val438=
XM_011510973.2:c.1038G>T XP_011509275.1:p.Val346=
XM_011510974.2:c.987G>T XP_011509276.1:p.Val329=
XM_017003818.1:c.1614G>T XP_016859307.1:p.Val538=
XM_024452794.1:c.1413G>T XP_024308562.1:p.Val471=
XM_024452795.1:c.1413G>T XP_024308563.1:p.Val471=
NM_001371271.1:c.1413G>T NP_001358200.1:p.Val471=
NM_001374353.1:c.1362G>T MANE Select NP_001361282.1:p.Val454=
NM_001374354.1:c.987G>T NP_001361283.1:p.Val329=
NM_005270.5:c.1413G>T NP_005261.2:p.Val471=