Canonical Allele Identifier: CA393993718
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173270-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173270C>A , CM000678.2:g.173270C>A GRCh38
NC_000016.9:g.223269C>A , CM000678.1:g.223269C>A GRCh37
NC_000016.8:g.163269C>A NCBI36
NG_000006.1:g.34133C>A
NG_059186.1:g.1620C>A
NG_059271.1:g.5424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.241C>A MANE Select ENSP00000251595.6:p.Leu81Met
ENST00000251595.10:c.241C>A ENSP00000251595.6:p.Leu81Met
ENST00000397806.1:c.145C>A ENSP00000380908.1:p.Leu49Met
ENST00000482565.1:n.377C>A
ENST00000484216.1:n.210C>A
NM_000517.4:c.241C>A NP_000508.1:p.Leu81Met
NM_000517.6:c.241C>A MANE Select NP_000508.1:p.Leu81Met