Canonical Allele Identifier: CA276414891

Gene: HBA2

Linked Data

• dbSNP Id: rs281864861
• MyVariant Identifiers: chr16:g.223261C>T (hg19) ; chr16:g.173262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173262C>T , CM000678.2:g.173262C>T	GRCh38
NC_000016.9:g.223261C>T , CM000678.1:g.223261C>T	GRCh37
NC_000016.8:g.163261C>T	NCBI36
NG_000006.1:g.34125C>T
NG_059186.1:g.1612C>T
NG_059271.1:g.5416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.233C>T MANE Select	ENSP00000251595.6:p.Pro78Leu
ENST00000251595.10:c.233C>T	ENSP00000251595.6:p.Pro78Leu
ENST00000397806.1:c.137C>T	ENSP00000380908.1:p.Pro46Leu
ENST00000482565.1:n.369C>T
ENST00000484216.1:n.202C>T
NM_000517.4:c.233C>T	NP_000508.1:p.Pro78Leu
NM_000517.6:c.233C>T MANE Select	NP_000508.1:p.Pro78Leu