Canonical Allele Identifier: CA25761405

Gene: DNASE2B

Linked Data

• dbSNP Id: rs566077486
• gnomAD v2: 1-84865402-G-GAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC
• gnomAD v3: 1-84399719-G-GAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC
• gnomAD v4: 1-84399719-G-GAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC
• MyVariant Identifiers: chr1:g.84865402_84865403insAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC (hg19) ; chr1:g.84399719_84399720insAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.84399721_84399763dup , CM000663.2:g.84399721_84399763dup	GRCh38
NC_000001.10:g.84865404_84865446dup , CM000663.1:g.84865404_84865446dup	GRCh37
NC_000001.9:g.84637992_84638034dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370665.4:c.125+1032_125+1074dup MANE Select	ENSP00000359699.3:n.125+1032_125+1074dup
ENST00000370665.3:c.125+1032_125+1074dup	ENSP00000359699.3:n.125+1032_125+1074dup
NM_021233.2:c.125+1032_125+1074dup	NP_067056.2:n.125+1032_125+1074dup
NM_021233.3:c.125+1032_125+1074dup MANE Select	NP_067056.2:n.125+1032_125+1074dup