ClinVar

NM_001220500.2(FCER2):c.812C>A (p.Ala271Asp)

Gene:

FCER2:Fc epsilon receptor II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7689347 (on Assembly GRCh38)
• Chr19: 7754233 (on Assembly GRCh37)

Preferred name:

NM_001220500.2(FCER2):c.812C>A (p.Ala271Asp)

HGVS:

• NC_000019.10:g.7689347G>T
• NG_029554.1:g.17800C>A
• NG_055288.2:g.13516G>T
• NM_001207019.3:c.809C>A
• NM_001220500.2:c.812C>AMANE SELECT
• NM_002002.5:c.812C>A
• NP_001193948.2:p.Ala270Asp
• NP_001207429.1:p.Ala271Asp
• NP_001993.2:p.Ala271Asp
• NC_000019.9:g.7754233G>T
• NM_001220500.1:c.812C>A

This HGVS expression did not pass validation

Protein change:

A270D

Molecular consequence:

• NM_001207019.3:c.809C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001220500.2:c.812C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002002.5:c.812C>A - missense variant - [Sequence Ontology: SO:0001583]