Canonical Allele Identifier: CA393994451
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173502G>C , CM000678.2:g.173502G>C GRCh38
NC_000016.9:g.223501G>C , CM000678.1:g.223501G>C GRCh37
NC_000016.8:g.163501G>C NCBI36
NG_000006.1:g.34365G>C
NG_059186.1:g.1852G>C
NG_059271.1:g.5656G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.331G>C MANE Select ENSP00000251595.6:p.Ala111Pro
ENST00000251595.10:c.331G>C ENSP00000251595.6:p.Ala111Pro
ENST00000397806.1:c.235G>C ENSP00000380908.1:p.Ala79Pro
ENST00000482565.1:n.467G>C
NM_000517.4:c.331G>C NP_000508.1:p.Ala111Pro
NM_000517.6:c.331G>C MANE Select NP_000508.1:p.Ala111Pro