Canonical Allele Identifier: CA25761439
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs776042200
gnomAD v2: 1-84865685-AAAG-A
MyVariant Identifiers: chr1:g.84865686_84865688del (hg19) chr1:g.84400003_84400005del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84400006_84400008del , CM000663.2:g.84400006_84400008del GRCh38
NC_000001.10:g.84865689_84865691del , CM000663.1:g.84865689_84865691del GRCh37
NC_000001.9:g.84638277_84638279del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1317_125+1319del MANE Select ENSP00000359699.3:n.125+1317_125+1319del
ENST00000370665.3:c.125+1317_125+1319del ENSP00000359699.3:n.125+1317_125+1319del
NM_021233.2:c.125+1317_125+1319del NP_067056.2:n.125+1317_125+1319del
NM_021233.3:c.125+1317_125+1319del MANE Select NP_067056.2:n.125+1317_125+1319del
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