Canonical Allele Identifier: CA393993268
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173138T>G , CM000678.2:g.173138T>G GRCh38
NC_000016.9:g.223137T>G , CM000678.1:g.223137T>G GRCh37
NC_000016.8:g.163137T>G NCBI36
NG_000006.1:g.34001T>G
NG_059186.1:g.1488T>G
NG_059271.1:g.5292T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.109T>G MANE Select ENSP00000251595.6:p.Phe37Val
ENST00000251595.10:c.109T>G ENSP00000251595.6:p.Phe37Val
ENST00000397806.1:c.13T>G ENSP00000380908.1:p.Phe5Val
ENST00000482565.1:n.245T>G
ENST00000484216.1:n.78T>G
NM_000517.4:c.109T>G NP_000508.1:p.Phe37Val
NM_000517.6:c.109T>G MANE Select NP_000508.1:p.Phe37Val