ClinVar

NM_019597.5(HNRNPH2):c.816T>C (p.Ser272=)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101412804 (on Assembly GRCh38)
• ChrX: 100667792 (on Assembly GRCh37)

Preferred name:

NM_019597.5(HNRNPH2):c.816T>C (p.Ser272=)

HGVS:

• NC_000023.11:g.101412804T>C
• NG_007119.1:g.160A>G
• NG_016327.1:g.9602T>C
• NM_001032393.3:c.816T>C
• NM_001199973.2:c.*812T>C
• NM_001199974.2:c.*812T>C
• NM_019597.5:c.816T>CMANE SELECT
• NP_001027565.1:p.Ser272=
• NP_062543.1:p.Ser272=
• LRG_672:g.160A>G
• NC_000023.10:g.100667792T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs782529056

NCBI 1000 Genomes Browser:

rs782529056

Molecular consequence:

• NM_001199973.2:c.*812T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001199974.2:c.*812T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001032393.3:c.816T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019597.5:c.816T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1