ClinVar

NM_000517.6(HBA2):c.287C>T (p.Pro96Leu)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 173316 (on Assembly GRCh38)
• Chr16: 223315 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.287C>T (p.Pro96Leu)

HGVS:

• NC_000016.10:g.173316C>T
• NG_000006.1:g.34179C>T
• NG_046165.1:g.3055C>T
• NG_059186.1:g.1666C>T
• NG_059271.1:g.5470C>T
• NM_000517.6:c.287C>TMANE SELECT
• NP_000508.1:p.Pro96Leu
• LRG_1240t1:c.287C>T
• LRG_1225:g.1666C>T
• LRG_1240:g.5470C>T
• LRG_1240p1:p.Pro96Leu
• NC_000016.9:g.223315C>T
• NM_000517.4:c.287C>T

This HGVS expression did not pass validation

Protein change:

P96L

Links:

dbSNP: rs281864880

NCBI 1000 Genomes Browser:

rs281864880

Molecular consequence:

• NM_000517.6:c.287C>T - missense variant - [Sequence Ontology: SO:0001583]