Canonical Allele Identifier: CA394335793

Gene: DNASE1L2

Linked Data

• MyVariant Identifiers: chr16:g.2287652T>A (hg19) ; chr16:g.2237651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237651T>A , CM000678.2:g.2237651T>A	GRCh38
NC_000016.9:g.2287652T>A , CM000678.1:g.2287652T>A	GRCh37
NC_000016.8:g.2227653T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.591+2T>A MANE Select	ENSP00000316938.5:n.591+2T>A
ENST00000320700.9:c.591+2T>A	ENSP00000316938.5:n.591+2T>A
ENST00000382437.8:c.528+2T>A	ENSP00000371874.4:n.528+2T>A
ENST00000564065.5:c.591+2T>A	ENSP00000454562.1:n.591+2T>A
ENST00000567494.5:c.591+2T>A	ENSP00000455358.1:n.591+2T>A
ENST00000569184.1:c.582+2T>A	ENSP00000455478.1:n.582+2T>A
ENST00000613572.4:c.528+2T>A	ENSP00000482627.1:n.528+2T>A
NM_001301680.1:c.591+2T>A	NP_001288609.1:n.591+2T>A
NM_001374.2:c.591+2T>A	NP_001365.1:n.591+2T>A
XM_011522399.1:c.864+2T>A	XP_011520701.1:n.864+2T>A
XM_011522399.2:c.864+2T>A	XP_011520701.1:n.864+2T>A
NM_001374.3:c.591+2T>A MANE Select	NP_001365.1:n.591+2T>A
NM_001301680.2:c.591+2T>A	NP_001288609.1:n.591+2T>A