Canonical Allele Identifier: CA348161674

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736148C>G (hg19) ; chr2:g.120978572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978572C>G , CM000664.2:g.120978572C>G	GRCh38
NC_000002.11:g.121736148C>G , CM000664.1:g.121736148C>G	GRCh37
NC_000002.10:g.121452618C>G	NCBI36
NG_009030.1:g.186282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1456C>G MANE Select	ENSP00000354586.5:p.His486Asp
ENST00000452319.6:c.1507C>G	ENSP00000390436.1:p.His503Asp
ENST00000314490.15:c.520C>G	ENSP00000312694.12:p.His174Asp
ENST00000341310.10:c.*555C>G	ENSP00000344473.6:n.*555C>G
ENST00000361492.8:c.1507C>G	ENSP00000354586.4:p.His503Asp
ENST00000435313.6:n.1481C>G
ENST00000437950.5:c.*606C>G	ENSP00000415773.1:n.*606C>G
ENST00000438299.5:c.*606C>G	ENSP00000400593.1:n.*606C>G
ENST00000445186.5:c.*606C>G	ENSP00000397488.1:n.*606C>G
ENST00000452319.5:c.1507C>G	ENSP00000390436.1:p.His503Asp
ENST00000452692.5:c.*555C>G	ENSP00000403715.1:n.*555C>G
NM_005270.4:c.1507C>G	NP_005261.2:p.His503Asp
XM_006712422.1:c.1456C>G	XP_006712485.1:p.His486Asp
XM_011510969.1:c.1489C>G	XP_011509271.1:p.His497Asp
XM_011510970.1:c.1366C>G	XP_011509272.1:p.His456Asp
XM_011510971.1:c.1312C>G	XP_011509273.1:p.His438Asp
XM_011510972.1:c.1312C>G	XP_011509274.1:p.His438Asp
XM_011510973.1:c.1132C>G	XP_011509275.1:p.His378Asp
XM_011510974.1:c.1081C>G	XP_011509276.1:p.His361Asp
XM_006712422.3:c.1456C>G	XP_006712485.1:p.His486Asp
XM_011510969.2:c.1759C>G	XP_011509271.2:p.His587Asp
XM_011510970.2:c.1366C>G	XP_011509272.1:p.His456Asp
XM_011510971.2:c.1312C>G	XP_011509273.1:p.His438Asp
XM_011510972.2:c.1408C>G	XP_011509274.2:p.His470Asp
XM_011510973.2:c.1132C>G	XP_011509275.1:p.His378Asp
XM_011510974.2:c.1081C>G	XP_011509276.1:p.His361Asp
XM_017003818.1:c.1708C>G	XP_016859307.1:p.His570Asp
XM_024452794.1:c.1507C>G	XP_024308562.1:p.His503Asp
XM_024452795.1:c.1507C>G	XP_024308563.1:p.His503Asp
NM_001371271.1:c.1507C>G	NP_001358200.1:p.His503Asp
NM_001374353.1:c.1456C>G MANE Select	NP_001361282.1:p.His486Asp
NM_001374354.1:c.1081C>G	NP_001361283.1:p.His361Asp
NM_005270.5:c.1507C>G	NP_005261.2:p.His503Asp