Canonical Allele Identifier: CA393994257

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223308G>T (hg19) ; chr16:g.173309G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173309G>T , CM000678.2:g.173309G>T	GRCh38
NC_000016.9:g.223308G>T , CM000678.1:g.223308G>T	GRCh37
NC_000016.8:g.163308G>T	NCBI36
NG_000006.1:g.34172G>T
NG_059186.1:g.1659G>T
NG_059271.1:g.5463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.280G>T MANE Select	ENSP00000251595.6:p.Val94Leu
ENST00000251595.10:c.280G>T	ENSP00000251595.6:p.Val94Leu
ENST00000397806.1:c.184G>T	ENSP00000380908.1:p.Val62Leu
ENST00000482565.1:n.416G>T
ENST00000484216.1:n.249G>T
NM_000517.4:c.280G>T	NP_000508.1:p.Val94Leu
NM_000517.6:c.280G>T MANE Select	NP_000508.1:p.Val94Leu