Canonical Allele Identifier: CA276414384

Gene: HBA2

Linked Data

• dbSNP Id: rs281864812
• MyVariant Identifiers: chr16:g.222961A>T (hg19) ; chr16:g.172962A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172962A>T , CM000678.2:g.172962A>T	GRCh38
NC_000016.9:g.222961A>T , CM000678.1:g.222961A>T	GRCh37
NC_000016.8:g.162961A>T	NCBI36
NG_000006.1:g.33825A>T
NG_059186.1:g.1312A>T
NG_059271.1:g.5116A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.50A>T MANE Select	ENSP00000251595.6:p.Lys17Met
ENST00000251595.10:c.50A>T	ENSP00000251595.6:p.Lys17Met
ENST00000397806.1:c.-2+4A>T	ENSP00000380908.1:n.-2+4A>T
ENST00000482565.1:n.69A>T
ENST00000484216.1:n.19A>T
NM_000517.4:c.50A>T	NP_000508.1:p.Lys17Met
NM_000517.6:c.50A>T MANE Select	NP_000508.1:p.Lys17Met