ClinVar

NM_000517.6(HBA2):c.173G>A (p.Gly58Asp)

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: 173202 (on Assembly GRCh38)
• Chr16: 223201 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.173G>A (p.Gly58Asp)

HGVS:

• NC_000016.10:g.173202G>A
• NG_000006.1:g.34065G>A
• NG_046165.1:g.2941G>A
• NG_059186.1:g.1552G>A
• NG_059271.1:g.5356G>A
• NM_000517.6:c.173G>AMANE SELECT
• NP_000508.1:p.Gly58Asp
• LRG_1240t1:c.173G>A
• LRG_1225:g.1552G>A
• LRG_1240:g.5356G>A
• LRG_1240p1:p.Gly58Asp
• NC_000016.9:g.223201G>A
• NM_000517.4:c.173G>A

This HGVS expression did not pass validation

Protein change:

G58D

Links:

dbSNP: rs281864844

NCBI 1000 Genomes Browser:

rs281864844

Molecular consequence:

• NM_000517.6:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]