Canonical Allele Identifier: CA393993255
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173133T>A , CM000678.2:g.173133T>A GRCh38
NC_000016.9:g.223132T>A , CM000678.1:g.223132T>A GRCh37
NC_000016.8:g.163132T>A NCBI36
NG_000006.1:g.33996T>A
NG_059186.1:g.1483T>A
NG_059271.1:g.5287T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.104T>A MANE Select ENSP00000251595.6:p.Leu35Gln
ENST00000251595.10:c.104T>A ENSP00000251595.6:p.Leu35Gln
ENST00000397806.1:c.8T>A ENSP00000380908.1:p.Leu3Gln
ENST00000482565.1:n.240T>A
ENST00000484216.1:n.73T>A
NM_000517.4:c.104T>A NP_000508.1:p.Leu35Gln
NM_000517.6:c.104T>A MANE Select NP_000508.1:p.Leu35Gln