Canonical Allele Identifier: CA394335225

Gene: DNASE1L2

Linked Data

• MyVariant Identifiers: chr16:g.2287552G>T (hg19) ; chr16:g.2237551G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.493G>T MANE Select	ENSP00000316938.5:p.Val165Leu
ENST00000320700.9:c.493G>T	ENSP00000316938.5:p.Val165Leu
ENST00000382437.8:c.430G>T	ENSP00000371874.4:p.Val144Leu
ENST00000564065.5:c.493G>T	ENSP00000454562.1:p.Val165Leu
ENST00000567494.5:c.493G>T	ENSP00000455358.1:p.Val165Leu
ENST00000569184.1:c.484G>T	ENSP00000455478.1:p.Val162Leu
ENST00000613572.4:c.430G>T	ENSP00000482627.1:p.Val144Leu
NM_001301680.1:c.493G>T	NP_001288609.1:p.Val165Leu
NM_001374.2:c.493G>T	NP_001365.1:p.Val165Leu
XM_011522399.1:c.766G>T	XP_011520701.1:p.Val256Leu
XM_011522399.2:c.766G>T	XP_011520701.1:p.Val256Leu
NM_001374.3:c.493G>T MANE Select	NP_001365.1:p.Val165Leu
NM_001301680.2:c.493G>T	NP_001288609.1:p.Val165Leu