Canonical Allele Identifier: CA739693961
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1296585292
gnomAD v3: 1-84400053-G-A
gnomAD v4: 1-84400053-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84400053G>A , CM000663.2:g.84400053G>A GRCh38
NC_000001.10:g.84865736G>A , CM000663.1:g.84865736G>A GRCh37
NC_000001.9:g.84638324G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1364G>A MANE Select ENSP00000359699.3:n.125+1364G>A
ENST00000370665.3:c.125+1364G>A ENSP00000359699.3:n.125+1364G>A
NM_021233.2:c.125+1364G>A NP_067056.2:n.125+1364G>A
NM_021233.3:c.125+1364G>A MANE Select NP_067056.2:n.125+1364G>A