ClinVar

NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50722678 (on Assembly GRCh38)
• Chr16: 50756589 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)

HGVS:

• NC_000016.10:g.50722678G>A
• NG_007508.1:g.30540G>A
• NM_001293557.2:c.2690G>A
• NM_001370466.1:c.2690G>AMANE SELECT
• NM_022162.3:c.2771G>A
• NP_001280486.1:p.Gly897Asp
• NP_001357395.1:p.Gly897Asp
• NP_071445.1:p.Gly924Asp
• LRG_177t1:c.2771G>A
• LRG_177:g.30540G>A
• NC_000016.9:g.50756589G>A
• NM_022162.1:c.2771G>A
• NM_022162.2:c.2771G>A
• NR_163434.1:n.2902G>A
• Q9HC29:p.Gly924Asp

This HGVS expression did not pass validation

Protein change:

G897D

Links:

UniProtKB: Q9HC29#VAR_012703; dbSNP: rs104895453

NCBI 1000 Genomes Browser:

rs104895453

Molecular consequence:

• NM_001293557.2:c.2690G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.2690G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.2771G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.2902G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]