ClinVar

NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)

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: 172967 (on Assembly GRCh38)
• Chr16: 222966 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)

HGVS:

• NC_000016.10:g.172967G>C
• NG_000006.1:g.33830G>C
• NG_046165.1:g.2706G>C
• NG_059186.1:g.1317G>C
• NG_059271.1:g.5121G>C
• NM_000517.6:c.55G>CMANE SELECT
• NP_000508.1:p.Gly19Arg
• LRG_1240t1:c.55G>C
• LRG_1225:g.1317G>C
• LRG_1240:g.5121G>C
• LRG_1240p1:p.Gly19Arg
• NC_000016.9:g.222966G>C
• NM_000517.4:c.55G>C

This HGVS expression did not pass validation

Protein change:

G19R

Links:

dbSNP: rs63750294

NCBI 1000 Genomes Browser:

rs63750294

Molecular consequence:

• NM_000517.6:c.55G>C - missense variant - [Sequence Ontology: SO:0001583]