Allele Registry

Canonical Allele Identifier: CA16102243

Gene: DGUOK-AS1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.73975451T>C

GRCh37 chr2:g.74202578T>C

Linked Data - Sequence & Population

gnomAD v2:

2:74202578 T / C

gnomAD v3:

2:73975451 T / C

gnomAD v4:

chr2-73975451-T-C

Joint Max Group AF 0.36508128 (AFR)

Genomes Max Group AF 0.36508128 (AFR)

Linked Data - NCBI & NCI

dbSNP:

4852324

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73975451T>C , CM000664.2:g.73975451T>C	GRCh38
NC_000002.11:g.74202578T>C , CM000664.1:g.74202578T>C	GRCh37
NC_000002.10:g.74056086T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_104029.1:n.331+5658A>G
NR_104030.1:n.305+5684A>G

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