Canonical Allele Identifier: CA393993384
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173177A>G , CM000678.2:g.173177A>G GRCh38
NC_000016.9:g.223176A>G , CM000678.1:g.223176A>G GRCh37
NC_000016.8:g.163176A>G NCBI36
NG_000006.1:g.34040A>G
NG_059186.1:g.1527A>G
NG_059271.1:g.5331A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.148A>G MANE Select ENSP00000251595.6:p.Ser50Gly
ENST00000251595.10:c.148A>G ENSP00000251595.6:p.Ser50Gly
ENST00000397806.1:c.52A>G ENSP00000380908.1:p.Ser18Gly
ENST00000482565.1:n.284A>G
ENST00000484216.1:n.117A>G
NM_000517.4:c.148A>G NP_000508.1:p.Ser50Gly
NM_000517.6:c.148A>G MANE Select NP_000508.1:p.Ser50Gly