Canonical Allele Identifier: CA393993567
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173231A>C , CM000678.2:g.173231A>C GRCh38
NC_000016.9:g.223230A>C , CM000678.1:g.223230A>C GRCh37
NC_000016.8:g.163230A>C NCBI36
NG_000006.1:g.34094A>C
NG_059186.1:g.1581A>C
NG_059271.1:g.5385A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.202A>C MANE Select ENSP00000251595.6:p.Thr68Pro
ENST00000251595.10:c.202A>C ENSP00000251595.6:p.Thr68Pro
ENST00000397806.1:c.106A>C ENSP00000380908.1:p.Thr36Pro
ENST00000482565.1:n.338A>C
ENST00000484216.1:n.171A>C
NM_000517.4:c.202A>C NP_000508.1:p.Thr68Pro
NM_000517.6:c.202A>C MANE Select NP_000508.1:p.Thr68Pro