Canonical Allele Identifier: CA25761365
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1006415168
gnomAD v2: 1-84865206-C-G
gnomAD v3: 1-84399523-C-G
gnomAD v4: 1-84399523-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399523C>G , CM000663.2:g.84399523C>G GRCh38
NC_000001.10:g.84865206C>G , CM000663.1:g.84865206C>G GRCh37
NC_000001.9:g.84637794C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+834C>G MANE Select ENSP00000359699.3:n.125+834C>G
ENST00000370665.3:c.125+834C>G ENSP00000359699.3:n.125+834C>G
NM_021233.2:c.125+834C>G NP_067056.2:n.125+834C>G
NM_021233.3:c.125+834C>G MANE Select NP_067056.2:n.125+834C>G