Canonical Allele Identifier: CA411693651

Gene: L3MBTL2 CHADL L3MBTL2-AS1

Linked Data

• MyVariant Identifiers: chr22:g.41613198T>G (hg19) ; chr22:g.41217194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41217194T>G , CM000684.2:g.41217194T>G	GRCh38
NC_000022.10:g.41613198T>G , CM000684.1:g.41613198T>G	GRCh37
NC_000022.9:g.39943144T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216237.10:c.592T>G (L3MBTL2) MANE Select	ENSP00000216237.5:p.Phe198Val
ENST00000216237.9:c.592T>G (L3MBTL2)	ENSP00000216237.5:p.Phe198Val
ENST00000449635.5:c.434T>G (L3MBTL2)
ENST00000450939.1:c.568T>G (L3MBTL2)	ENSP00000403767.1:p.Phe190Val
ENST00000452106.5:c.592T>G (L3MBTL2)	ENSP00000414423.1:p.Phe198Val
ENST00000466589.5:n.646T>G (L3MBTL2)
ENST00000479978.5:n.634T>G (L3MBTL2)
ENST00000481902.5:n.715T>G (L3MBTL2)
NM_031488.4:c.592T>G (L3MBTL2)	NP_113676.2:p.Phe198Val
XM_005261370.2:c.*194-7243A>C (CHADL)	XP_005261427.1:n.*194-7243A>C
XM_011529932.1:c.*194-7243A>C (CHADL)	XP_011528234.1:n.*194-7243A>C
XM_011529934.1:c.2467-7243A>C (CHADL)	XP_011528236.1:n.2467-7243A>C
XM_011530420.1:c.538T>G (L3MBTL2)	XP_011528722.1:p.Phe180Val
XM_011530421.1:c.319T>G (L3MBTL2)	XP_011528723.1:p.Phe107Val
XR_937933.1:n.643T>G (L3MBTL2)
NR_148200.1:n.434A>C (L3MBTL2-AS1)
XM_011530420.2:c.538T>G (L3MBTL2)	XP_011528722.1:p.Phe180Val
XM_011530421.3:c.319T>G (L3MBTL2)	XP_011528723.1:p.Phe107Val
XM_017028976.1:c.458T>G (L3MBTL2)	XP_016884465.1:p.Phe153Cys
XM_017028977.1:c.-446T>G (L3MBTL2)	XP_016884466.1:n.-446T>G
XM_017028978.1:c.-368T>G (L3MBTL2)	XP_016884467.1:n.-368T>G
XM_017028979.1:c.-368T>G (L3MBTL2)	XP_016884468.1:n.-368T>G
XM_017028980.2:c.-182T>G (L3MBTL2)	XP_016884469.1:n.-182T>G
XM_024452279.1:c.-368T>G (L3MBTL2)	XP_024308047.1:n.-368T>G
XR_001755320.2:n.643T>G (L3MBTL2)
XR_001755321.2:n.643T>G (L3MBTL2)
XR_001755322.2:n.643T>G (L3MBTL2)
XR_002958718.1:n.370T>G (L3MBTL2)
XR_002958719.1:n.643T>G (L3MBTL2)
NM_031488.5:c.592T>G (L3MBTL2) MANE Select	NP_113676.2:p.Phe198Val