Canonical Allele Identifier: CA348161596

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978536-G-A
• MyVariant Identifiers: chr2:g.121736112G>A (hg19) ; chr2:g.120978536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978536G>A , CM000664.2:g.120978536G>A	GRCh38
NC_000002.11:g.121736112G>A , CM000664.1:g.121736112G>A	GRCh37
NC_000002.10:g.121452582G>A	NCBI36
NG_009030.1:g.186246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1420G>A MANE Select	ENSP00000354586.5:p.Val474Met
ENST00000452319.6:c.1471G>A	ENSP00000390436.1:p.Val491Met
ENST00000314490.15:c.484G>A	ENSP00000312694.12:p.Val162Met
ENST00000341310.10:c.*519G>A	ENSP00000344473.6:n.*519G>A
ENST00000361492.8:c.1471G>A	ENSP00000354586.4:p.Val491Met
ENST00000435313.6:n.1445G>A
ENST00000437950.5:c.*570G>A	ENSP00000415773.1:n.*570G>A
ENST00000438299.5:c.*570G>A	ENSP00000400593.1:n.*570G>A
ENST00000445186.5:c.*570G>A	ENSP00000397488.1:n.*570G>A
ENST00000452319.5:c.1471G>A	ENSP00000390436.1:p.Val491Met
ENST00000452692.5:c.*519G>A	ENSP00000403715.1:n.*519G>A
NM_005270.4:c.1471G>A	NP_005261.2:p.Val491Met
XM_006712422.1:c.1420G>A	XP_006712485.1:p.Val474Met
XM_011510969.1:c.1453G>A	XP_011509271.1:p.Val485Met
XM_011510970.1:c.1330G>A	XP_011509272.1:p.Val444Met
XM_011510971.1:c.1276G>A	XP_011509273.1:p.Val426Met
XM_011510972.1:c.1276G>A	XP_011509274.1:p.Val426Met
XM_011510973.1:c.1096G>A	XP_011509275.1:p.Val366Met
XM_011510974.1:c.1045G>A	XP_011509276.1:p.Val349Met
XM_006712422.3:c.1420G>A	XP_006712485.1:p.Val474Met
XM_011510969.2:c.1723G>A	XP_011509271.2:p.Val575Met
XM_011510970.2:c.1330G>A	XP_011509272.1:p.Val444Met
XM_011510971.2:c.1276G>A	XP_011509273.1:p.Val426Met
XM_011510972.2:c.1372G>A	XP_011509274.2:p.Val458Met
XM_011510973.2:c.1096G>A	XP_011509275.1:p.Val366Met
XM_011510974.2:c.1045G>A	XP_011509276.1:p.Val349Met
XM_017003818.1:c.1672G>A	XP_016859307.1:p.Val558Met
XM_024452794.1:c.1471G>A	XP_024308562.1:p.Val491Met
XM_024452795.1:c.1471G>A	XP_024308563.1:p.Val491Met
NM_001371271.1:c.1471G>A	NP_001358200.1:p.Val491Met
NM_001374353.1:c.1420G>A MANE Select	NP_001361282.1:p.Val474Met
NM_001374354.1:c.1045G>A	NP_001361283.1:p.Val349Met
NM_005270.5:c.1471G>A	NP_005261.2:p.Val491Met