Canonical Allele Identifier: CA492994585
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223178C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173179C>T , CM000678.2:g.173179C>T GRCh38
NC_000016.9:g.223178C>T , CM000678.1:g.223178C>T GRCh37
NC_000016.8:g.163178C>T NCBI36
NG_000006.1:g.34042C>T
NG_059186.1:g.1529C>T
NG_059271.1:g.5333C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.150C>T MANE Select ENSP00000251595.6:p.Ser50=
ENST00000251595.10:c.150C>T ENSP00000251595.6:p.Ser50=
ENST00000397806.1:c.54C>T ENSP00000380908.1:p.Ser18=
ENST00000482565.1:n.286C>T
ENST00000484216.1:n.119C>T
NM_000517.4:c.150C>T NP_000508.1:p.Ser50=
NM_000517.6:c.150C>T MANE Select NP_000508.1:p.Ser50=