Canonical Allele Identifier: CA276414723

Gene: HBA2

Linked Data

• dbSNP Id: rs281864845
• MyVariant Identifiers: chr16:g.223203C>T (hg19) ; chr16:g.173204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173204C>T , CM000678.2:g.173204C>T	GRCh38
NC_000016.9:g.223203C>T , CM000678.1:g.223203C>T	GRCh37
NC_000016.8:g.163203C>T	NCBI36
NG_000006.1:g.34067C>T
NG_059186.1:g.1554C>T
NG_059271.1:g.5358C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.175C>T MANE Select	ENSP00000251595.6:p.His59Tyr
ENST00000251595.10:c.175C>T	ENSP00000251595.6:p.His59Tyr
ENST00000397806.1:c.79C>T	ENSP00000380908.1:p.His27Tyr
ENST00000482565.1:n.311C>T
ENST00000484216.1:n.144C>T
NM_000517.4:c.175C>T	NP_000508.1:p.His59Tyr
NM_000517.6:c.175C>T MANE Select	NP_000508.1:p.His59Tyr