Canonical Allele Identifier: CA428229935

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978505-G-A
• MyVariant Identifiers: chr2:g.121736081G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978505G>A , CM000664.2:g.120978505G>A	GRCh38
NC_000002.11:g.121736081G>A , CM000664.1:g.121736081G>A	GRCh37
NC_000002.10:g.121452551G>A	NCBI36
NG_009030.1:g.186215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1389G>A MANE Select	ENSP00000354586.5:p.Glu463=
ENST00000452319.6:c.1440G>A	ENSP00000390436.1:p.Glu480=
ENST00000314490.15:c.453G>A	ENSP00000312694.12:p.Glu151=
ENST00000341310.10:c.*488G>A	ENSP00000344473.6:n.*488G>A
ENST00000361492.8:c.1440G>A	ENSP00000354586.4:p.Glu480=
ENST00000435313.6:n.1414G>A
ENST00000437950.5:c.*539G>A	ENSP00000415773.1:n.*539G>A
ENST00000438299.5:c.*539G>A	ENSP00000400593.1:n.*539G>A
ENST00000445186.5:c.*539G>A	ENSP00000397488.1:n.*539G>A
ENST00000452319.5:c.1440G>A	ENSP00000390436.1:p.Glu480=
ENST00000452692.5:c.*488G>A	ENSP00000403715.1:n.*488G>A
NM_005270.4:c.1440G>A	NP_005261.2:p.Glu480=
XM_006712422.1:c.1389G>A	XP_006712485.1:p.Glu463=
XM_011510969.1:c.1422G>A	XP_011509271.1:p.Glu474=
XM_011510970.1:c.1299G>A	XP_011509272.1:p.Glu433=
XM_011510971.1:c.1245G>A	XP_011509273.1:p.Glu415=
XM_011510972.1:c.1245G>A	XP_011509274.1:p.Glu415=
XM_011510973.1:c.1065G>A	XP_011509275.1:p.Glu355=
XM_011510974.1:c.1014G>A	XP_011509276.1:p.Glu338=
XM_006712422.3:c.1389G>A	XP_006712485.1:p.Glu463=
XM_011510969.2:c.1692G>A	XP_011509271.2:p.Glu564=
XM_011510970.2:c.1299G>A	XP_011509272.1:p.Glu433=
XM_011510971.2:c.1245G>A	XP_011509273.1:p.Glu415=
XM_011510972.2:c.1341G>A	XP_011509274.2:p.Glu447=
XM_011510973.2:c.1065G>A	XP_011509275.1:p.Glu355=
XM_011510974.2:c.1014G>A	XP_011509276.1:p.Glu338=
XM_017003818.1:c.1641G>A	XP_016859307.1:p.Glu547=
XM_024452794.1:c.1440G>A	XP_024308562.1:p.Glu480=
XM_024452795.1:c.1440G>A	XP_024308563.1:p.Glu480=
NM_001371271.1:c.1440G>A	NP_001358200.1:p.Glu480=
NM_001374353.1:c.1389G>A MANE Select	NP_001361282.1:p.Glu463=
NM_001374354.1:c.1014G>A	NP_001361283.1:p.Glu338=
NM_005270.5:c.1440G>A	NP_005261.2:p.Glu480=