Canonical Allele Identifier: CA492994527
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223139C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173140C>T , CM000678.2:g.173140C>T GRCh38
NC_000016.9:g.223139C>T , CM000678.1:g.223139C>T GRCh37
NC_000016.8:g.163139C>T NCBI36
NG_000006.1:g.34003C>T
NG_059186.1:g.1490C>T
NG_059271.1:g.5294C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.111C>T MANE Select ENSP00000251595.6:p.Phe37=
ENST00000251595.10:c.111C>T ENSP00000251595.6:p.Phe37=
ENST00000397806.1:c.15C>T ENSP00000380908.1:p.Phe5=
ENST00000482565.1:n.247C>T
ENST00000484216.1:n.80C>T
NM_000517.4:c.111C>T NP_000508.1:p.Phe37=
NM_000517.6:c.111C>T MANE Select NP_000508.1:p.Phe37=