ClinVar

NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)

Genes:

HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
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: 173323 (on Assembly GRCh38)
• Chr16: 223322 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)

Other names:

N97K; Hb Dallas

HGVS:

• NC_000016.10:g.173323C>A
• NG_000006.1:g.34186C>A
• NG_046165.1:g.3062C>A
• NG_059186.1:g.1673C>A
• NG_059271.1:g.5477C>A
• NG_115661.1:g.79C>A
• NM_000517.6:c.294C>AMANE SELECT
• NM_000558.5:c.294C>AMANE SELECT
• NP_000508.1:p.Asn98Lys
• NP_000549.1:p.Asn98Lys
• NP_000549.1:p.Asn98Lys
• LRG_1225t1:c.294C>A
• LRG_1240t1:c.294C>A
• LRG_1225:g.1673C>A
• LRG_1225p1:p.Asn98Lys
• LRG_1240:g.5477C>A
• LRG_1240p1:p.Asn98Lys
• NC_000016.9:g.223322C>A
• NM_000517.4:c.294C>A
• NM_000558.1:c.294C>A

This HGVS expression did not pass validation

Protein change:

N98K; ASN97LYS

Links:

HBVAR: 162; LOVD 3: HBA2_000411; OMIM: 141800.0025; OMIM: 141850.0075; dbSNP: rs41338947

NCBI 1000 Genomes Browser:

rs41338947

Molecular consequence:

• NM_000517.6:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_000558.5:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]