ClinVar

NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)

Gene:

NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50722660 (on Assembly GRCh38)
• Chr16: 50756571 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)

HGVS:

• NC_000016.10:g.50722660C>A
• NG_007508.1:g.30522C>A
• NM_001293557.2:c.2672C>A
• NM_001370466.1:c.2672C>AMANE SELECT
• NM_022162.3:c.2753C>A
• NP_001280486.1:p.Ala891Asp
• NP_001357395.1:p.Ala891Asp
• NP_071445.1:p.Ala918Asp
• LRG_177t1:c.2753C>A
• LRG_177:g.30522C>A
• NC_000016.9:g.50756571C>A
• NM_022162.1:c.2753C>A
• NM_022162.2:c.2753C>A
• NR_163434.1:n.2884C>A
• Q9HC29:p.Ala918Asp

This HGVS expression did not pass validation

Protein change:

A891D

Links:

UniProtKB: Q9HC29#VAR_012702; dbSNP: rs104895452

NCBI 1000 Genomes Browser:

rs104895452

Molecular consequence:

• NM_001293557.2:c.2672C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.2672C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.2753C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.2884C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]