Canonical Allele Identifier: CA428559504

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990654-G-A
• MyVariant Identifiers: chr2:g.121748230G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990654G>A , CM000664.2:g.120990654G>A	GRCh38
NC_000002.11:g.121748230G>A , CM000664.1:g.121748230G>A	GRCh37
NC_000002.10:g.121464700G>A	NCBI36
NG_009030.1:g.198364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4689G>A MANE Select	ENSP00000354586.5:p.Lys1563=
ENST00000452319.6:c.4740G>A	ENSP00000390436.1:p.Lys1580=
ENST00000341310.10:c.*3788G>A	ENSP00000344473.6:n.*3788G>A
ENST00000361492.8:c.4740G>A	ENSP00000354586.4:p.Lys1580=
ENST00000438299.5:c.*2608G>A	ENSP00000400593.1:n.*2608G>A
ENST00000445186.5:c.*3839G>A	ENSP00000397488.1:n.*3839G>A
ENST00000452319.5:c.4740G>A	ENSP00000390436.1:p.Lys1580=
ENST00000452692.5:c.*2557G>A	ENSP00000403715.1:n.*2557G>A
NM_005270.4:c.4740G>A	NP_005261.2:p.Lys1580=
XM_006712422.1:c.4689G>A	XP_006712485.1:p.Lys1563=
XM_011510969.1:c.4722G>A	XP_011509271.1:p.Lys1574=
XM_011510970.1:c.4599G>A	XP_011509272.1:p.Lys1533=
XM_011510971.1:c.4545G>A	XP_011509273.1:p.Lys1515=
XM_011510972.1:c.4545G>A	XP_011509274.1:p.Lys1515=
XM_011510973.1:c.4365G>A	XP_011509275.1:p.Lys1455=
XM_011510974.1:c.4314G>A	XP_011509276.1:p.Lys1438=
XM_006712422.3:c.4689G>A	XP_006712485.1:p.Lys1563=
XM_011510969.2:c.4992G>A	XP_011509271.2:p.Lys1664=
XM_011510970.2:c.4599G>A	XP_011509272.1:p.Lys1533=
XM_011510971.2:c.4545G>A	XP_011509273.1:p.Lys1515=
XM_011510972.2:c.4641G>A	XP_011509274.2:p.Lys1547=
XM_011510973.2:c.4365G>A	XP_011509275.1:p.Lys1455=
XM_011510974.2:c.4314G>A	XP_011509276.1:p.Lys1438=
XM_017003818.1:c.4941G>A	XP_016859307.1:p.Lys1647=
XM_024452794.1:c.4740G>A	XP_024308562.1:p.Lys1580=
XM_024452795.1:c.4740G>A	XP_024308563.1:p.Lys1580=
NM_001371271.1:c.4740G>A	NP_001358200.1:p.Lys1580=
NM_001374353.1:c.4689G>A MANE Select	NP_001361282.1:p.Lys1563=
NM_001374354.1:c.4314G>A	NP_001361283.1:p.Lys1438=
NM_005270.5:c.4740G>A	NP_005261.2:p.Lys1580=