Canonical Allele Identifier: CA25761445
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs943478638
gnomAD v2: 1-84865714-A-T
gnomAD v3: 1-84400031-A-T
gnomAD v4: 1-84400031-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84400031A>T , CM000663.2:g.84400031A>T GRCh38
NC_000001.10:g.84865714A>T , CM000663.1:g.84865714A>T GRCh37
NC_000001.9:g.84638302A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1342A>T MANE Select ENSP00000359699.3:n.125+1342A>T
ENST00000370665.3:c.125+1342A>T ENSP00000359699.3:n.125+1342A>T
NM_021233.2:c.125+1342A>T NP_067056.2:n.125+1342A>T
NM_021233.3:c.125+1342A>T MANE Select NP_067056.2:n.125+1342A>T