ClinVar

NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)

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: 172986 (on Assembly GRCh38)
• Chr16: 222985 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)

HGVS:

• NC_000016.10:g.172986A>G
• NG_000006.1:g.33849A>G
• NG_046165.1:g.2725A>G
• NG_059186.1:g.1336A>G
• NG_059271.1:g.5140A>G
• NM_000517.6:c.74A>GMANE SELECT
• NP_000508.1:p.Tyr25Cys
• LRG_1240t1:c.74A>G
• LRG_1225:g.1336A>G
• LRG_1240:g.5140A>G
• LRG_1240p1:p.Tyr25Cys
• NC_000016.9:g.222985A>G

This HGVS expression did not pass validation

Protein change:

Y25C

Links:

dbSNP: rs1902038723

NCBI 1000 Genomes Browser:

rs1902038723

Molecular consequence:

• NM_000517.6:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]