Canonical Allele Identifier: CA523776023
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1484434245
gnomAD v2: 1-84865658-G-C
gnomAD v3: 1-84399975-G-C
gnomAD v4: 1-84399975-G-C
MyVariant Identifiers: chr1:g.84865658G>C (hg19) chr1:g.84399975G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399975G>C , CM000663.2:g.84399975G>C GRCh38
NC_000001.10:g.84865658G>C , CM000663.1:g.84865658G>C GRCh37
NC_000001.9:g.84638246G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1286G>C MANE Select ENSP00000359699.3:n.125+1286G>C
ENST00000370665.3:c.125+1286G>C ENSP00000359699.3:n.125+1286G>C
NM_021233.2:c.125+1286G>C NP_067056.2:n.125+1286G>C
NM_021233.3:c.125+1286G>C MANE Select NP_067056.2:n.125+1286G>C
Search 100 bp 5'
Search 100 bp 3'