Canonical Allele Identifier: CA67532773
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs540524089
gnomAD v2: 2-234158716-C-G
gnomAD v3: 2-233250070-C-G
gnomAD v4: 2-233250070-C-G
MyVariant Identifiers: chr2:g.234158716C>G (hg19) chr2:g.233250070C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233250070C>G , CM000664.2:g.233250070C>G GRCh38
NC_000002.11:g.234158716C>G , CM000664.1:g.234158716C>G GRCh37
NC_000002.10:g.233823455C>G NCBI36
NG_023038.1:g.3500C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000431917.5:c.-137-6032C>G ENSP00000397512.1:n.-137-6032C>G
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