Canonical Allele Identifier: CA393994554
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173541G>C , CM000678.2:g.173541G>C GRCh38
NC_000016.9:g.223540G>C , CM000678.1:g.223540G>C GRCh37
NC_000016.8:g.163540G>C NCBI36
NG_000006.1:g.34404G>C
NG_059186.1:g.1891G>C
NG_059271.1:g.5695G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.370G>C MANE Select ENSP00000251595.6:p.Ala124Pro
ENST00000251595.10:c.370G>C ENSP00000251595.6:p.Ala124Pro
ENST00000397806.1:c.274G>C ENSP00000380908.1:p.Ala92Pro
ENST00000482565.1:n.506G>C
NM_000517.4:c.370G>C NP_000508.1:p.Ala124Pro
NM_000517.6:c.370G>C MANE Select NP_000508.1:p.Ala124Pro