Canonical Allele Identifier: CA492994622

Gene: HBA2

Linked Data

• ClinVar Variation Id: 811236
• ClinVar RCV Id: RCV001000967
• dbSNP Id: rs1596569781
• MyVariant Identifiers: chr16:g.223208C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173209C>T , CM000678.2:g.173209C>T	GRCh38
NC_000016.9:g.223208C>T , CM000678.1:g.223208C>T	GRCh37
NC_000016.8:g.163208C>T	NCBI36
NG_000006.1:g.34072C>T
NG_059186.1:g.1559C>T
NG_059271.1:g.5363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.180C>T MANE Select	ENSP00000251595.6:p.Gly60=
ENST00000251595.10:c.180C>T	ENSP00000251595.6:p.Gly60=
ENST00000397806.1:c.84C>T	ENSP00000380908.1:p.Gly28=
ENST00000482565.1:n.316C>T
ENST00000484216.1:n.149C>T
NM_000517.4:c.180C>T	NP_000508.1:p.Gly60=
NM_000517.6:c.180C>T MANE Select	NP_000508.1:p.Gly60=