Canonical Allele Identifier: CA393993270
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173139T>C , CM000678.2:g.173139T>C GRCh38
NC_000016.9:g.223138T>C , CM000678.1:g.223138T>C GRCh37
NC_000016.8:g.163138T>C NCBI36
NG_000006.1:g.34002T>C
NG_059186.1:g.1489T>C
NG_059271.1:g.5293T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.110T>C MANE Select ENSP00000251595.6:p.Phe37Ser
ENST00000251595.10:c.110T>C ENSP00000251595.6:p.Phe37Ser
ENST00000397806.1:c.14T>C ENSP00000380908.1:p.Phe5Ser
ENST00000482565.1:n.246T>C
ENST00000484216.1:n.79T>C
NM_000517.4:c.110T>C NP_000508.1:p.Phe37Ser
NM_000517.6:c.110T>C MANE Select NP_000508.1:p.Phe37Ser