Canonical Allele Identifier: CA25761424

Gene: DNASE2B

Linked Data

• dbSNP Id: rs923856975
• gnomAD v2: 1-84865517-C-T
• gnomAD v3: 1-84399834-C-T
• gnomAD v4: 1-84399834-C-T
• MyVariant Identifiers: chr1:g.84865517C>T (hg19) ; chr1:g.84399834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.84399834C>T , CM000663.2:g.84399834C>T	GRCh38
NC_000001.10:g.84865517C>T , CM000663.1:g.84865517C>T	GRCh37
NC_000001.9:g.84638105C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370665.4:c.125+1145C>T MANE Select	ENSP00000359699.3:n.125+1145C>T
ENST00000370665.3:c.125+1145C>T	ENSP00000359699.3:n.125+1145C>T
NM_021233.2:c.125+1145C>T	NP_067056.2:n.125+1145C>T
NM_021233.3:c.125+1145C>T MANE Select	NP_067056.2:n.125+1145C>T