Canonical Allele Identifier: CA393993265
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173136C>T , CM000678.2:g.173136C>T GRCh38
NC_000016.9:g.223135C>T , CM000678.1:g.223135C>T GRCh37
NC_000016.8:g.163135C>T NCBI36
NG_000006.1:g.33999C>T
NG_059186.1:g.1486C>T
NG_059271.1:g.5290C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.107C>T MANE Select ENSP00000251595.6:p.Ser36Phe
ENST00000251595.10:c.107C>T ENSP00000251595.6:p.Ser36Phe
ENST00000397806.1:c.11C>T ENSP00000380908.1:p.Ser4Phe
ENST00000482565.1:n.243C>T
ENST00000484216.1:n.76C>T
NM_000517.4:c.107C>T NP_000508.1:p.Ser36Phe
NM_000517.6:c.107C>T MANE Select NP_000508.1:p.Ser36Phe