ClinVar

NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)

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: 173480 (on Assembly GRCh38)
• Chr16: 223479 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)

Other names:

S102R; Hb Manitoba III

HGVS:

• NC_000016.10:g.173480C>A
• NG_000006.1:g.34343C>A
• NG_046165.1:g.3219C>A
• NG_059186.1:g.1830C>A
• NG_059271.1:g.5634C>A
• NM_000517.6:c.309C>AMANE SELECT
• NP_000508.1:p.Ser103Arg
• LRG_1240t1:c.309C>A
• HBA2:c.309C>A
• LRG_1225:g.1830C>A
• LRG_1240:g.5634C>A
• LRG_1240p1:p.Ser103Arg
• NC_000016.9:g.223479C>A
• NM_000517.4:c.309C>A
• P69905:p.Ser103Arg

This HGVS expression did not pass validation

Protein change:

S103R; SER102ARG

Links:

HBVAR: 1121; UniProtKB: P69905#VAR_002819; OMIM: 141850.0047; dbSNP: rs41344646

NCBI 1000 Genomes Browser:

rs41344646

Molecular consequence:

• NM_000517.6:c.309C>A - missense variant - [Sequence Ontology: SO:0001583]