Canonical Allele Identifier: CA393993442
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173196T>A , CM000678.2:g.173196T>A GRCh38
NC_000016.9:g.223195T>A , CM000678.1:g.223195T>A GRCh37
NC_000016.8:g.163195T>A NCBI36
NG_000006.1:g.34059T>A
NG_059186.1:g.1546T>A
NG_059271.1:g.5350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.167T>A MANE Select ENSP00000251595.6:p.Val56Asp
ENST00000251595.10:c.167T>A ENSP00000251595.6:p.Val56Asp
ENST00000397806.1:c.71T>A ENSP00000380908.1:p.Val24Asp
ENST00000482565.1:n.303T>A
ENST00000484216.1:n.136T>A
NM_000517.4:c.167T>A NP_000508.1:p.Val56Asp
NM_000517.6:c.167T>A MANE Select NP_000508.1:p.Val56Asp