Canonical Allele Identifier: CA25761417

Gene: DNASE2B

Linked Data

• dbSNP Id: rs549167923
• gnomAD v2: 1-84865486-G-C
• gnomAD v3: 1-84399803-G-C
• gnomAD v4: 1-84399803-G-C
• MyVariant Identifiers: chr1:g.84865486G>C (hg19) ; chr1:g.84399803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.84399803G>C , CM000663.2:g.84399803G>C	GRCh38
NC_000001.10:g.84865486G>C , CM000663.1:g.84865486G>C	GRCh37
NC_000001.9:g.84638074G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370665.4:c.125+1114G>C MANE Select	ENSP00000359699.3:n.125+1114G>C
ENST00000370665.3:c.125+1114G>C	ENSP00000359699.3:n.125+1114G>C
NM_021233.2:c.125+1114G>C	NP_067056.2:n.125+1114G>C
NM_021233.3:c.125+1114G>C MANE Select	NP_067056.2:n.125+1114G>C