Canonical Allele Identifier: CA67532917

Gene: ATG16L1

Linked Data

• dbSNP Id: rs752450580
• gnomAD v2: 2-234158942-A-G
• gnomAD v3: 2-233250296-A-G
• gnomAD v4: 2-233250296-A-G
• MyVariant Identifiers: chr2:g.234158942A>G (hg19) ; chr2:g.233250296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233250296A>G , CM000664.2:g.233250296A>G	GRCh38
NC_000002.11:g.234158942A>G , CM000664.1:g.234158942A>G	GRCh37
NC_000002.10:g.233823681A>G	NCBI36
NG_023038.1:g.3726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431917.5:c.-137-5806A>G	ENSP00000397512.1:n.-137-5806A>G