Canonical Allele Identifier: CA394335281

Gene: DNASE1L2

Linked Data

• MyVariant Identifiers: chr16:g.2287561C>G (hg19) ; chr16:g.2237560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237560C>G , CM000678.2:g.2237560C>G	GRCh38
NC_000016.9:g.2287561C>G , CM000678.1:g.2287561C>G	GRCh37
NC_000016.8:g.2227562C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.502C>G MANE Select	ENSP00000316938.5:p.Pro168Ala
ENST00000320700.9:c.502C>G	ENSP00000316938.5:p.Pro168Ala
ENST00000382437.8:c.439C>G	ENSP00000371874.4:p.Pro147Ala
ENST00000564065.5:c.502C>G	ENSP00000454562.1:p.Pro168Ala
ENST00000567494.5:c.502C>G	ENSP00000455358.1:p.Pro168Ala
ENST00000569184.1:c.493C>G	ENSP00000455478.1:p.Pro165Ala
ENST00000613572.4:c.439C>G	ENSP00000482627.1:p.Pro147Ala
NM_001301680.1:c.502C>G	NP_001288609.1:p.Pro168Ala
NM_001374.2:c.502C>G	NP_001365.1:p.Pro168Ala
XM_011522399.1:c.775C>G	XP_011520701.1:p.Pro259Ala
XM_011522399.2:c.775C>G	XP_011520701.1:p.Pro259Ala
NM_001374.3:c.502C>G MANE Select	NP_001365.1:p.Pro168Ala
NM_001301680.2:c.502C>G	NP_001288609.1:p.Pro168Ala