Canonical Allele Identifier: CA739693635
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1271231826
gnomAD v3: 1-84399531-C-A
gnomAD v4: 1-84399531-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399531C>A , CM000663.2:g.84399531C>A GRCh38
NC_000001.10:g.84865214C>A , CM000663.1:g.84865214C>A GRCh37
NC_000001.9:g.84637802C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+842C>A MANE Select ENSP00000359699.3:n.125+842C>A
ENST00000370665.3:c.125+842C>A ENSP00000359699.3:n.125+842C>A
NM_021233.2:c.125+842C>A NP_067056.2:n.125+842C>A
NM_021233.3:c.125+842C>A MANE Select NP_067056.2:n.125+842C>A