Canonical Allele Identifier: CA393993570
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1098490
ClinVar RCV Id: RCV001420423
dbSNP Id: rs2142017990

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173232C>T , CM000678.2:g.173232C>T GRCh38
NC_000016.9:g.223231C>T , CM000678.1:g.223231C>T GRCh37
NC_000016.8:g.163231C>T NCBI36
NG_000006.1:g.34095C>T
NG_059186.1:g.1582C>T
NG_059271.1:g.5386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.203C>T MANE Select ENSP00000251595.6:p.Thr68Ile
ENST00000251595.10:c.203C>T ENSP00000251595.6:p.Thr68Ile
ENST00000397806.1:c.107C>T ENSP00000380908.1:p.Thr36Ile
ENST00000482565.1:n.339C>T
ENST00000484216.1:n.172C>T
NM_000517.4:c.203C>T NP_000508.1:p.Thr68Ile
NM_000517.6:c.203C>T MANE Select NP_000508.1:p.Thr68Ile