Canonical Allele Identifier: CA2200880955
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173560T= , CM000678.2:g.173560T= GRCh38
NC_000016.9:g.223559T= , CM000678.1:g.223559T= GRCh37
NC_000016.8:g.163559T= NCBI36
NG_000006.1:g.34423T=
NG_059186.1:g.1910T=
NG_059271.1:g.5714T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.389T= MANE Select ENSP00000251595.6:p.Leu130=
ENST00000251595.10:c.389T= ENSP00000251595.6:p.Leu130=
ENST00000397806.1:c.293T= ENSP00000380908.1:p.Leu98=
ENST00000482565.1:n.525T=
NM_000517.4:c.389T= NP_000508.1:p.Leu130=
NM_000517.6:c.389T= MANE Select NP_000508.1:p.Leu130=