Canonical Allele Identifier: CA394335223

Gene: DNASE1L2

Linked Data

• gnomAD v4: 16-2237551-G-A
• MyVariant Identifiers: chr16:g.2287552G>A (hg19) ; chr16:g.2237551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237551G>A , CM000678.2:g.2237551G>A	GRCh38
NC_000016.9:g.2287552G>A , CM000678.1:g.2287552G>A	GRCh37
NC_000016.8:g.2227553G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.493G>A MANE Select	ENSP00000316938.5:p.Val165Met
ENST00000320700.9:c.493G>A	ENSP00000316938.5:p.Val165Met
ENST00000382437.8:c.430G>A	ENSP00000371874.4:p.Val144Met
ENST00000564065.5:c.493G>A	ENSP00000454562.1:p.Val165Met
ENST00000567494.5:c.493G>A	ENSP00000455358.1:p.Val165Met
ENST00000569184.1:c.484G>A	ENSP00000455478.1:p.Val162Met
ENST00000613572.4:c.430G>A	ENSP00000482627.1:p.Val144Met
NM_001301680.1:c.493G>A	NP_001288609.1:p.Val165Met
NM_001374.2:c.493G>A	NP_001365.1:p.Val165Met
XM_011522399.1:c.766G>A	XP_011520701.1:p.Val256Met
XM_011522399.2:c.766G>A	XP_011520701.1:p.Val256Met
NM_001374.3:c.493G>A MANE Select	NP_001365.1:p.Val165Met
NM_001301680.2:c.493G>A	NP_001288609.1:p.Val165Met