ClinVar

NM_000517.6(HBA2):c.414C>T (p.Thr138=)

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: 173585 (on Assembly GRCh38)
• Chr16: 223584 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.414C>T (p.Thr138=)

Other names:

CD 137 ACC>ACT

HGVS:

• NC_000016.10:g.173585C>T
• NG_000006.1:g.34448C>T
• NG_046165.1:g.3324C>T
• NG_059186.1:g.1935C>T
• NG_059271.1:g.5739C>T
• NM_000517.6:c.414C>TMANE SELECT
• NP_000508.1:p.Thr138=
• LRG_1240t1:c.414C>T
• LRG_1225:g.1935C>T
• LRG_1240:g.5739C>T
• LRG_1240p1:p.Thr138=
• NC_000016.9:g.223584C>T
• NM_000517.4:c.414C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs371394396

NCBI 1000 Genomes Browser:

rs371394396

Molecular consequence:

• NM_000517.6:c.414C>T - synonymous variant - [Sequence Ontology: SO:0001819]