Canonical Allele Identifier: CA2202125409

Gene: DNASE1L2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237550G= , CM000678.2:g.2237550G=	GRCh38
NC_000016.9:g.2287551G= , CM000678.1:g.2287551G=	GRCh37
NC_000016.8:g.2227552G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.492G= MANE Select	ENSP00000316938.5:p.Leu164=
ENST00000320700.9:c.492G=	ENSP00000316938.5:p.Leu164=
ENST00000382437.8:c.429G=	ENSP00000371874.4:p.Leu143=
ENST00000564065.5:c.492G=	ENSP00000454562.1:p.Leu164=
ENST00000567494.5:c.492G=	ENSP00000455358.1:p.Leu164=
ENST00000569184.1:c.483G=	ENSP00000455478.1:p.Leu161=
ENST00000613572.4:c.429G=	ENSP00000482627.1:p.Leu143=
NM_001301680.1:c.492G=	NP_001288609.1:p.Leu164=
NM_001374.2:c.492G=	NP_001365.1:p.Leu164=
XM_011522399.1:c.765G=	XP_011520701.1:p.Leu255=
XM_011522399.2:c.765G=	XP_011520701.1:p.Leu255=
NM_001374.3:c.492G= MANE Select	NP_001365.1:p.Leu164=
NM_001301680.2:c.492G=	NP_001288609.1:p.Leu164=