Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA168123

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142341

ClinVar RCV Id: RCV000131413 RCV000227062 RCV000486473 RCV000524379 RCV000767207 RCV003467174 RCV003998103 RCV004532570

ClinVar Variation Id: 408484

ClinVar RCV Id: RCV002230803

ClinVar Variation Id: 455549

ClinVar RCV Id: RCV000539212

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Met726Ile	CA020172 NM_000251.3:c.2178G>C CA16610890 NM_000251.3:c.2178G>A CA346729377 NM_000251.3:c.2178G>T