Canonical Allele Identifier: CA492785511

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223566T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173567T>C , CM000678.2:g.173567T>C	GRCh38
NC_000016.9:g.223566T>C , CM000678.1:g.223566T>C	GRCh37
NC_000016.8:g.163566T>C	NCBI36
NG_000006.1:g.34430T>C
NG_059186.1:g.1917T>C
NG_059271.1:g.5721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.396T>C MANE Select	ENSP00000251595.6:p.Ser132=
ENST00000251595.10:c.396T>C	ENSP00000251595.6:p.Ser132=
ENST00000397806.1:c.300T>C	ENSP00000380908.1:p.Ser100=
ENST00000482565.1:n.532T>C
NM_000517.4:c.396T>C	NP_000508.1:p.Ser132=
NM_000517.6:c.396T>C MANE Select	NP_000508.1:p.Ser132=