ClinVar

NM_000517.6(HBA2):c.300G>T (p.Lys100Asn)

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: 173329 (on Assembly GRCh38)
• Chr16: 223328 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.300G>T (p.Lys100Asn)

HGVS:

• NC_000016.10:g.173329G>T
• NG_000006.1:g.34192G>T
• NG_046165.1:g.3068G>T
• NG_059186.1:g.1679G>T
• NG_059271.1:g.5483G>T
• NM_000517.6:c.300G>TMANE SELECT
• NP_000508.1:p.Lys100Asn
• LRG_1240t1:c.300G>T
• LRG_1225:g.1679G>T
• LRG_1240:g.5483G>T
• LRG_1240p1:p.Lys100Asn
• NC_000016.9:g.223328G>T

This HGVS expression did not pass validation

Protein change:

K100N

Links:

dbSNP: rs281864555

NCBI 1000 Genomes Browser:

rs281864555

Molecular consequence:

• NM_000517.6:c.300G>T - missense variant - [Sequence Ontology: SO:0001583]