Canonical Allele Identifier: CA540034177

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1209892936
• gnomAD v2: 2-234158823-A-G
• gnomAD v3: 2-233250177-A-G
• gnomAD v4: 2-233250177-A-G
• MyVariant Identifiers: chr2:g.234158823A>G (hg19) ; chr2:g.233250177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233250177A>G , CM000664.2:g.233250177A>G	GRCh38
NC_000002.11:g.234158823A>G , CM000664.1:g.234158823A>G	GRCh37
NC_000002.10:g.233823562A>G	NCBI36
NG_023038.1:g.3607A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000431917.5:c.-137-5925A>G	ENSP00000397512.1:n.-137-5925A>G