Canonical Allele Identifier: CA25761441
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs942179789
gnomAD v2: 1-84865695-A-C
gnomAD v3: 1-84400012-A-C
gnomAD v4: 1-84400012-A-C
MyVariant Identifiers: chr1:g.84865695A>C (hg19) chr1:g.84400012A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84400012A>C , CM000663.2:g.84400012A>C GRCh38
NC_000001.10:g.84865695A>C , CM000663.1:g.84865695A>C GRCh37
NC_000001.9:g.84638283A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+1323A>C MANE Select ENSP00000359699.3:n.125+1323A>C
ENST00000370665.3:c.125+1323A>C ENSP00000359699.3:n.125+1323A>C
NM_021233.2:c.125+1323A>C NP_067056.2:n.125+1323A>C
NM_021233.3:c.125+1323A>C MANE Select NP_067056.2:n.125+1323A>C
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