Canonical Allele Identifier: CA492994516
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223130C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173131C>T , CM000678.2:g.173131C>T GRCh38
NC_000016.9:g.223130C>T , CM000678.1:g.223130C>T GRCh37
NC_000016.8:g.163130C>T NCBI36
NG_000006.1:g.33994C>T
NG_059186.1:g.1481C>T
NG_059271.1:g.5285C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.102C>T MANE Select ENSP00000251595.6:p.Phe34=
ENST00000251595.10:c.102C>T ENSP00000251595.6:p.Phe34=
ENST00000397806.1:c.6C>T ENSP00000380908.1:p.Phe2=
ENST00000482565.1:n.238C>T
ENST00000484216.1:n.71C>T
NM_000517.4:c.102C>T NP_000508.1:p.Phe34=
NM_000517.6:c.102C>T MANE Select NP_000508.1:p.Phe34=