Canonical Allele Identifier: CA411693639

Gene: L3MBTL2 CHADL L3MBTL2-AS1

Linked Data

• MyVariant Identifiers: chr22:g.41613194C>A (hg19) ; chr22:g.41217190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41217190C>A , CM000684.2:g.41217190C>A	GRCh38
NC_000022.10:g.41613194C>A , CM000684.1:g.41613194C>A	GRCh37
NC_000022.9:g.39943140C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216237.10:c.588C>A (L3MBTL2) MANE Select	ENSP00000216237.5:p.Ser196Arg
ENST00000216237.9:c.588C>A (L3MBTL2)	ENSP00000216237.5:p.Ser196Arg
ENST00000449635.5:c.430C>A (L3MBTL2)
ENST00000450939.1:c.564C>A (L3MBTL2)	ENSP00000403767.1:p.Ser188Arg
ENST00000452106.5:c.588C>A (L3MBTL2)	ENSP00000414423.1:p.Ser196Arg
ENST00000466589.5:n.642C>A (L3MBTL2)
ENST00000479978.5:n.630C>A (L3MBTL2)
ENST00000481902.5:n.711C>A (L3MBTL2)
NM_031488.4:c.588C>A (L3MBTL2)	NP_113676.2:p.Ser196Arg
XM_005261370.2:c.*194-7239G>T (CHADL)	XP_005261427.1:n.*194-7239G>T
XM_011529932.1:c.*194-7239G>T (CHADL)	XP_011528234.1:n.*194-7239G>T
XM_011529934.1:c.2467-7239G>T (CHADL)	XP_011528236.1:n.2467-7239G>T
XM_011530420.1:c.534C>A (L3MBTL2)	XP_011528722.1:p.Ser178Arg
XM_011530421.1:c.315C>A (L3MBTL2)	XP_011528723.1:p.Ser105Arg
XR_937933.1:n.639C>A (L3MBTL2)
NR_148200.1:n.438G>T (L3MBTL2-AS1)
XM_011530420.2:c.534C>A (L3MBTL2)	XP_011528722.1:p.Ser178Arg
XM_011530421.3:c.315C>A (L3MBTL2)	XP_011528723.1:p.Ser105Arg
XM_017028976.1:c.454C>A (L3MBTL2)	XP_016884465.1:p.Leu152Met
XM_017028977.1:c.-450C>A (L3MBTL2)	XP_016884466.1:n.-450C>A
XM_017028978.1:c.-372C>A (L3MBTL2)	XP_016884467.1:n.-372C>A
XM_017028979.1:c.-372C>A (L3MBTL2)	XP_016884468.1:n.-372C>A
XM_017028980.2:c.-186C>A (L3MBTL2)	XP_016884469.1:n.-186C>A
XM_024452279.1:c.-372C>A (L3MBTL2)	XP_024308047.1:n.-372C>A
XR_001755320.2:n.639C>A (L3MBTL2)
XR_001755321.2:n.639C>A (L3MBTL2)
XR_001755322.2:n.639C>A (L3MBTL2)
XR_002958718.1:n.366C>A (L3MBTL2)
XR_002958719.1:n.639C>A (L3MBTL2)
NM_031488.5:c.588C>A (L3MBTL2) MANE Select	NP_113676.2:p.Ser196Arg