Canonical Allele Identifier: CA1851916

Gene: GLI2

Linked Data

• dbSNP Id: rs758168887
• ExAC: 2:121736148 C / A
• gnomAD v2: 2-121736148-C-A
• MyVariant Identifiers: chr2:g.121736148C>A (hg19) ; chr2:g.120978572C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1456C>A MANE Select	ENSP00000354586.5:p.His486Asn
ENST00000452319.6:c.1507C>A	ENSP00000390436.1:p.His503Asn
ENST00000314490.15:c.520C>A	ENSP00000312694.12:p.His174Asn
ENST00000341310.10:c.*555C>A	ENSP00000344473.6:n.*555C>A
ENST00000361492.8:c.1507C>A	ENSP00000354586.4:p.His503Asn
ENST00000435313.6:n.1481C>A
ENST00000437950.5:c.*606C>A	ENSP00000415773.1:n.*606C>A
ENST00000438299.5:c.*606C>A	ENSP00000400593.1:n.*606C>A
ENST00000445186.5:c.*606C>A	ENSP00000397488.1:n.*606C>A
ENST00000452319.5:c.1507C>A	ENSP00000390436.1:p.His503Asn
ENST00000452692.5:c.*555C>A	ENSP00000403715.1:n.*555C>A
NM_005270.4:c.1507C>A	NP_005261.2:p.His503Asn
XM_006712422.1:c.1456C>A	XP_006712485.1:p.His486Asn
XM_011510969.1:c.1489C>A	XP_011509271.1:p.His497Asn
XM_011510970.1:c.1366C>A	XP_011509272.1:p.His456Asn
XM_011510971.1:c.1312C>A	XP_011509273.1:p.His438Asn
XM_011510972.1:c.1312C>A	XP_011509274.1:p.His438Asn
XM_011510973.1:c.1132C>A	XP_011509275.1:p.His378Asn
XM_011510974.1:c.1081C>A	XP_011509276.1:p.His361Asn
XM_006712422.3:c.1456C>A	XP_006712485.1:p.His486Asn
XM_011510969.2:c.1759C>A	XP_011509271.2:p.His587Asn
XM_011510970.2:c.1366C>A	XP_011509272.1:p.His456Asn
XM_011510971.2:c.1312C>A	XP_011509273.1:p.His438Asn
XM_011510972.2:c.1408C>A	XP_011509274.2:p.His470Asn
XM_011510973.2:c.1132C>A	XP_011509275.1:p.His378Asn
XM_011510974.2:c.1081C>A	XP_011509276.1:p.His361Asn
XM_017003818.1:c.1708C>A	XP_016859307.1:p.His570Asn
XM_024452794.1:c.1507C>A	XP_024308562.1:p.His503Asn
XM_024452795.1:c.1507C>A	XP_024308563.1:p.His503Asn
NM_001371271.1:c.1507C>A	NP_001358200.1:p.His503Asn
NM_001374353.1:c.1456C>A MANE Select	NP_001361282.1:p.His486Asn
NM_001374354.1:c.1081C>A	NP_001361283.1:p.His361Asn
NM_005270.5:c.1507C>A	NP_005261.2:p.His503Asn