ClinVar

NM_000184.2(HBG2):c.79G>A (p.Glu27Lys)

Genes:

LOC106099065:HBG2 recombination region [Gene]
HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 5254650 (on Assembly GRCh38)
• Chr11: 5275880 (on Assembly GRCh37)

Preferred name:

NM_000184.2(HBG2):c.79G>A (p.Glu27Lys)

Other names:

E26K

HGVS:

• NC_000011.10:g.5254650C>T
• NG_000007.3:g.42966G>A
• NG_042299.1:g.764C>T
• NM_000184.3:c.79G>AMANE SELECT
• NP_000175.1:p.Glu27Lys
• NP_000175.1:p.Glu27Lys
• HBG2:c.79G>A
• NC_000011.9:g.5275880C>T
• NM_000184.2:c.79G>A
• P69892:p.Glu27Lys

This HGVS expression did not pass validation

Protein change:

E27K; GLU26LYS

Links:

HBVAR: 592; UniProtKB: P69892#VAR_003139; OMIM: 142250.0019; dbSNP: rs35654328

NCBI 1000 Genomes Browser:

rs35654328

Molecular consequence:

• NM_000184.3:c.79G>A - missense variant - [Sequence Ontology: SO:0001583]