ClinVar

NM_001367711.1(HRH2):c.248A>G (p.Lys83Arg)

Gene:

HRH2:histamine receptor H2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.2

Genomic location:

• Chr5: 175683481 (on Assembly GRCh38)
• Chr5: 175110484 (on Assembly GRCh37)

Preferred name:

NM_001367711.1(HRH2):c.248A>G (p.Lys83Arg)

HGVS:

• NC_000005.10:g.175683481A>G
• NM_001131055.2:c.248A>G
• NM_001367711.1:c.248A>GMANE SELECT
• NM_001393460.1:c.248A>G
• NM_001393461.1:c.248A>G
• NP_001124527.1:p.Lys83Arg
• NP_001354640.1:p.Lys83Arg
• NP_001380389.1:p.Lys83Arg
• NP_001380390.1:p.Lys83Arg
• NC_000005.9:g.175110484A>G
• NR_160284.1:n.858A>G

This HGVS expression did not pass validation

Protein change:

K83R

Molecular consequence:

• NM_001131055.2:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367711.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393460.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393461.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_160284.1:n.858A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]