Canonical Allele Identifier: CA393994571
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173545-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173545C>T , CM000678.2:g.173545C>T GRCh38
NC_000016.9:g.223544C>T , CM000678.1:g.223544C>T GRCh37
NC_000016.8:g.163544C>T NCBI36
NG_000006.1:g.34408C>T
NG_059186.1:g.1895C>T
NG_059271.1:g.5699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.374C>T MANE Select ENSP00000251595.6:p.Ser125Phe
ENST00000251595.10:c.374C>T ENSP00000251595.6:p.Ser125Phe
ENST00000397806.1:c.278C>T ENSP00000380908.1:p.Ser93Phe
ENST00000482565.1:n.510C>T
NM_000517.4:c.374C>T NP_000508.1:p.Ser125Phe
NM_000517.6:c.374C>T MANE Select NP_000508.1:p.Ser125Phe