Canonical Allele Identifier: CA393993292

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223146A>T (hg19) ; chr16:g.173147A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173147A>T , CM000678.2:g.173147A>T	GRCh38
NC_000016.9:g.223146A>T , CM000678.1:g.223146A>T	GRCh37
NC_000016.8:g.163146A>T	NCBI36
NG_000006.1:g.34010A>T
NG_059186.1:g.1497A>T
NG_059271.1:g.5301A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.118A>T MANE Select	ENSP00000251595.6:p.Thr40Ser
ENST00000251595.10:c.118A>T	ENSP00000251595.6:p.Thr40Ser
ENST00000397806.1:c.22A>T	ENSP00000380908.1:p.Thr8Ser
ENST00000482565.1:n.254A>T
ENST00000484216.1:n.87A>T
NM_000517.4:c.118A>T	NP_000508.1:p.Thr40Ser
NM_000517.6:c.118A>T MANE Select	NP_000508.1:p.Thr40Ser