Canonical Allele Identifier: CA7838896

Gene: DNASE1L2

Linked Data

• dbSNP Id: rs748368432
• ExAC: 16:2287558 A / C
• gnomAD v2: 16-2287558-A-C
• gnomAD v4: 16-2237557-A-C
• MyVariant Identifiers: chr16:g.2287558A>C (hg19) ; chr16:g.2237557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237557A>C , CM000678.2:g.2237557A>C	GRCh38
NC_000016.9:g.2287558A>C , CM000678.1:g.2287558A>C	GRCh37
NC_000016.8:g.2227559A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.499A>C MANE Select	ENSP00000316938.5:p.Ile167Leu
ENST00000320700.9:c.499A>C	ENSP00000316938.5:p.Ile167Leu
ENST00000382437.8:c.436A>C	ENSP00000371874.4:p.Ile146Leu
ENST00000564065.5:c.499A>C	ENSP00000454562.1:p.Ile167Leu
ENST00000567494.5:c.499A>C	ENSP00000455358.1:p.Ile167Leu
ENST00000569184.1:c.490A>C	ENSP00000455478.1:p.Ile164Leu
ENST00000613572.4:c.436A>C	ENSP00000482627.1:p.Ile146Leu
NM_001301680.1:c.499A>C	NP_001288609.1:p.Ile167Leu
NM_001374.2:c.499A>C	NP_001365.1:p.Ile167Leu
XM_011522399.1:c.772A>C	XP_011520701.1:p.Ile258Leu
XM_011522399.2:c.772A>C	XP_011520701.1:p.Ile258Leu
NM_001374.3:c.499A>C MANE Select	NP_001365.1:p.Ile167Leu
NM_001301680.2:c.499A>C	NP_001288609.1:p.Ile167Leu