Canonical Allele Identifier: CA523776016
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1301974864
gnomAD v2: 1-84865469-C-T
gnomAD v3: 1-84399786-C-T
gnomAD v4: 1-84399786-C-T
MyVariant Identifiers: chr1:g.84865469C>T (hg19) chr1:g.84399786C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399786C>T , CM000663.2:g.84399786C>T GRCh38
NC_000001.10:g.84865469C>T , CM000663.1:g.84865469C>T GRCh37
NC_000001.9:g.84638057C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1097C>T MANE Select ENSP00000359699.3:n.125+1097C>T
ENST00000370665.3:c.125+1097C>T ENSP00000359699.3:n.125+1097C>T
NM_021233.2:c.125+1097C>T NP_067056.2:n.125+1097C>T
NM_021233.3:c.125+1097C>T MANE Select NP_067056.2:n.125+1097C>T
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