Canonical Allele Identifier: CA393993257
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.104T>C MANE Select ENSP00000251595.6:p.Leu35Pro
ENST00000251595.10:c.104T>C ENSP00000251595.6:p.Leu35Pro
ENST00000397806.1:c.8T>C ENSP00000380908.1:p.Leu3Pro
ENST00000482565.1:n.240T>C
ENST00000484216.1:n.73T>C
NM_000517.4:c.104T>C NP_000508.1:p.Leu35Pro
NM_000517.6:c.104T>C MANE Select NP_000508.1:p.Leu35Pro