Canonical Allele Identifier: CA493057208

Gene: DNASE1L2

Linked Data

• MyVariant Identifiers: chr16:g.2287554G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237553G>C , CM000678.2:g.2237553G>C	GRCh38
NC_000016.9:g.2287554G>C , CM000678.1:g.2287554G>C	GRCh37
NC_000016.8:g.2227555G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.495G>C MANE Select	ENSP00000316938.5:p.Val165=
ENST00000320700.9:c.495G>C	ENSP00000316938.5:p.Val165=
ENST00000382437.8:c.432G>C	ENSP00000371874.4:p.Val144=
ENST00000564065.5:c.495G>C	ENSP00000454562.1:p.Val165=
ENST00000567494.5:c.495G>C	ENSP00000455358.1:p.Val165=
ENST00000569184.1:c.486G>C	ENSP00000455478.1:p.Val162=
ENST00000613572.4:c.432G>C	ENSP00000482627.1:p.Val144=
NM_001301680.1:c.495G>C	NP_001288609.1:p.Val165=
NM_001374.2:c.495G>C	NP_001365.1:p.Val165=
XM_011522399.1:c.768G>C	XP_011520701.1:p.Val256=
XM_011522399.2:c.768G>C	XP_011520701.1:p.Val256=
NM_001374.3:c.495G>C MANE Select	NP_001365.1:p.Val165=
NM_001301680.2:c.495G>C	NP_001288609.1:p.Val165=