Canonical Allele Identifier: CA348170988

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746546T>A (hg19) ; chr2:g.120988970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988970T>A , CM000664.2:g.120988970T>A	GRCh38
NC_000002.11:g.121746546T>A , CM000664.1:g.121746546T>A	GRCh37
NC_000002.10:g.121463016T>A	NCBI36
NG_009030.1:g.196680T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3005T>A MANE Select	ENSP00000354586.5:p.Leu1002Gln
ENST00000452319.6:c.3056T>A	ENSP00000390436.1:p.Leu1019Gln
ENST00000341310.10:c.*2104T>A	ENSP00000344473.6:n.*2104T>A
ENST00000361492.8:c.3056T>A	ENSP00000354586.4:p.Leu1019Gln
ENST00000438299.5:c.*2155T>A	ENSP00000400593.1:n.*2155T>A
ENST00000445186.5:c.*2155T>A	ENSP00000397488.1:n.*2155T>A
ENST00000452319.5:c.3056T>A	ENSP00000390436.1:p.Leu1019Gln
ENST00000452692.5:c.*2104T>A	ENSP00000403715.1:n.*2104T>A
NM_005270.4:c.3056T>A	NP_005261.2:p.Leu1019Gln
XM_006712422.1:c.3005T>A	XP_006712485.1:p.Leu1002Gln
XM_011510969.1:c.3038T>A	XP_011509271.1:p.Leu1013Gln
XM_011510970.1:c.2915T>A	XP_011509272.1:p.Leu972Gln
XM_011510971.1:c.2861T>A	XP_011509273.1:p.Leu954Gln
XM_011510972.1:c.2861T>A	XP_011509274.1:p.Leu954Gln
XM_011510973.1:c.2681T>A	XP_011509275.1:p.Leu894Gln
XM_011510974.1:c.2630T>A	XP_011509276.1:p.Leu877Gln
XM_006712422.3:c.3005T>A	XP_006712485.1:p.Leu1002Gln
XM_011510969.2:c.3308T>A	XP_011509271.2:p.Leu1103Gln
XM_011510970.2:c.2915T>A	XP_011509272.1:p.Leu972Gln
XM_011510971.2:c.2861T>A	XP_011509273.1:p.Leu954Gln
XM_011510972.2:c.2957T>A	XP_011509274.2:p.Leu986Gln
XM_011510973.2:c.2681T>A	XP_011509275.1:p.Leu894Gln
XM_011510974.2:c.2630T>A	XP_011509276.1:p.Leu877Gln
XM_017003818.1:c.3257T>A	XP_016859307.1:p.Leu1086Gln
XM_024452794.1:c.3056T>A	XP_024308562.1:p.Leu1019Gln
XM_024452795.1:c.3056T>A	XP_024308563.1:p.Leu1019Gln
NM_001371271.1:c.3056T>A	NP_001358200.1:p.Leu1019Gln
NM_001374353.1:c.3005T>A MANE Select	NP_001361282.1:p.Leu1002Gln
NM_001374354.1:c.2630T>A	NP_001361283.1:p.Leu877Gln
NM_005270.5:c.3056T>A	NP_005261.2:p.Leu1019Gln