Canonical Allele Identifier: CA276414842
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864854

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173247A>G , CM000678.2:g.173247A>G GRCh38
NC_000016.9:g.223246A>G , CM000678.1:g.223246A>G GRCh37
NC_000016.8:g.163246A>G NCBI36
NG_000006.1:g.34110A>G
NG_059186.1:g.1597A>G
NG_059271.1:g.5401A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.218A>G MANE Select ENSP00000251595.6:p.His73Arg
ENST00000251595.10:c.218A>G ENSP00000251595.6:p.His73Arg
ENST00000397806.1:c.122A>G ENSP00000380908.1:p.His41Arg
ENST00000482565.1:n.354A>G
ENST00000484216.1:n.187A>G
NM_000517.4:c.218A>G NP_000508.1:p.His73Arg
NM_000517.6:c.218A>G MANE Select NP_000508.1:p.His73Arg