Canonical Allele Identifier: CA739693687
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs1449633180
gnomAD v3: 1-84399610-T-C
gnomAD v4: 1-84399610-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399610T>C , CM000663.2:g.84399610T>C GRCh38
NC_000001.10:g.84865293T>C , CM000663.1:g.84865293T>C GRCh37
NC_000001.9:g.84637881T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370665.4:c.125+921T>C MANE Select ENSP00000359699.3:n.125+921T>C
ENST00000370665.3:c.125+921T>C ENSP00000359699.3:n.125+921T>C
NM_021233.2:c.125+921T>C NP_067056.2:n.125+921T>C
NM_021233.3:c.125+921T>C MANE Select NP_067056.2:n.125+921T>C