Canonical Allele Identifier: CA411693633

Gene: L3MBTL2 CHADL L3MBTL2-AS1

Linked Data

• MyVariant Identifiers: chr22:g.41613192A>C (hg19) ; chr22:g.41217188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41217188A>C , CM000684.2:g.41217188A>C	GRCh38
NC_000022.10:g.41613192A>C , CM000684.1:g.41613192A>C	GRCh37
NC_000022.9:g.39943138A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216237.10:c.586A>C (L3MBTL2) MANE Select	ENSP00000216237.5:p.Ser196Arg
ENST00000216237.9:c.586A>C (L3MBTL2)	ENSP00000216237.5:p.Ser196Arg
ENST00000449635.5:c.428A>C (L3MBTL2)
ENST00000450939.1:c.562A>C (L3MBTL2)	ENSP00000403767.1:p.Ser188Arg
ENST00000452106.5:c.586A>C (L3MBTL2)	ENSP00000414423.1:p.Ser196Arg
ENST00000466589.5:n.640A>C (L3MBTL2)
ENST00000479978.5:n.628A>C (L3MBTL2)
ENST00000481902.5:n.709A>C (L3MBTL2)
NM_031488.4:c.586A>C (L3MBTL2)	NP_113676.2:p.Ser196Arg
XM_005261370.2:c.*194-7237T>G (CHADL)	XP_005261427.1:n.*194-7237T>G
XM_011529932.1:c.*194-7237T>G (CHADL)	XP_011528234.1:n.*194-7237T>G
XM_011529934.1:c.2467-7237T>G (CHADL)	XP_011528236.1:n.2467-7237T>G
XM_011530420.1:c.532A>C (L3MBTL2)	XP_011528722.1:p.Ser178Arg
XM_011530421.1:c.313A>C (L3MBTL2)	XP_011528723.1:p.Ser105Arg
XR_937933.1:n.637A>C (L3MBTL2)
NR_148200.1:n.440T>G (L3MBTL2-AS1)
XM_011530420.2:c.532A>C (L3MBTL2)	XP_011528722.1:p.Ser178Arg
XM_011530421.3:c.313A>C (L3MBTL2)	XP_011528723.1:p.Ser105Arg
XM_017028976.1:c.452A>C (L3MBTL2)	XP_016884465.1:p.Gln151Pro
XM_017028977.1:c.-452A>C (L3MBTL2)	XP_016884466.1:n.-452A>C
XM_017028978.1:c.-374A>C (L3MBTL2)	XP_016884467.1:n.-374A>C
XM_017028979.1:c.-374A>C (L3MBTL2)	XP_016884468.1:n.-374A>C
XM_017028980.2:c.-188A>C (L3MBTL2)	XP_016884469.1:n.-188A>C
XM_024452279.1:c.-374A>C (L3MBTL2)	XP_024308047.1:n.-374A>C
XR_001755320.2:n.637A>C (L3MBTL2)
XR_001755321.2:n.637A>C (L3MBTL2)
XR_001755322.2:n.637A>C (L3MBTL2)
XR_002958718.1:n.364A>C (L3MBTL2)
XR_002958719.1:n.637A>C (L3MBTL2)
NM_031488.5:c.586A>C (L3MBTL2) MANE Select	NP_113676.2:p.Ser196Arg