Canonical Allele Identifier: CA2601223506
Gene: DNASE2B HGNC NCBI

Linked Data

dbSNP Id: rs2101845864
gnomAD v3: 1-84399433-T-C
gnomAD v4: 1-84399433-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84399433T>C , CM000663.2:g.84399433T>C GRCh38
NC_000001.10:g.84865116T>C , CM000663.1:g.84865116T>C GRCh37
NC_000001.9:g.84637704T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370665.4:c.125+744T>C MANE Select ENSP00000359699.3:n.125+744T>C
ENST00000370665.3:c.125+744T>C ENSP00000359699.3:n.125+744T>C
NM_021233.2:c.125+744T>C NP_067056.2:n.125+744T>C
NM_021233.3:c.125+744T>C MANE Select NP_067056.2:n.125+744T>C