Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA67532938

Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs981877693

gnomAD v3: 2-233250316-T-G

gnomAD v4: 2-233250316-T-G

MyVariant Identifiers: chr2:g.233250316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233250316T>G , CM000664.2:g.233250316T>G	GRCh38
NC_000002.11:g.234158962T>G , CM000664.1:g.234158962T>G	GRCh37
NC_000002.10:g.233823701T>G	NCBI36
NG_023038.1:g.3746T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000431917.5:c.-137-5786T>G	ENSP00000397512.1:n.-137-5786T>G

Search 100 bp 5'

Search 100 bp 3'