Canonical Allele Identifier: CA739693909
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1471658789
gnomAD v3: 1-84399987-C-T
gnomAD v4: 1-84399987-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399987C>T , CM000663.2:g.84399987C>T GRCh38
NC_000001.10:g.84865670C>T , CM000663.1:g.84865670C>T GRCh37
NC_000001.9:g.84638258C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1298C>T MANE Select ENSP00000359699.3:n.125+1298C>T
ENST00000370665.3:c.125+1298C>T ENSP00000359699.3:n.125+1298C>T
NM_021233.2:c.125+1298C>T NP_067056.2:n.125+1298C>T
NM_021233.3:c.125+1298C>T MANE Select NP_067056.2:n.125+1298C>T