Canonical Allele Identifier: CA393993673
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173261C>G , CM000678.2:g.173261C>G GRCh38
NC_000016.9:g.223260C>G , CM000678.1:g.223260C>G GRCh37
NC_000016.8:g.163260C>G NCBI36
NG_000006.1:g.34124C>G
NG_059186.1:g.1611C>G
NG_059271.1:g.5415C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.232C>G MANE Select ENSP00000251595.6:p.Pro78Ala
ENST00000251595.10:c.232C>G ENSP00000251595.6:p.Pro78Ala
ENST00000397806.1:c.136C>G ENSP00000380908.1:p.Pro46Ala
ENST00000482565.1:n.368C>G
ENST00000484216.1:n.201C>G
NM_000517.4:c.232C>G NP_000508.1:p.Pro78Ala
NM_000517.6:c.232C>G MANE Select NP_000508.1:p.Pro78Ala