Canonical Allele Identifier: CA125622

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15667
• ClinVar RCV Id: RCV000016953
• dbSNP Id: rs281864814
• MyVariant Identifiers: chr16:g.222972C>G (hg19) ; chr16:g.172973C>G (hg38)
• PubMed: PMID:11186260

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172973C>G , CM000678.2:g.172973C>G	GRCh38
NC_000016.9:g.222972C>G , CM000678.1:g.222972C>G	GRCh37
NC_000016.8:g.162972C>G	NCBI36
NG_000006.1:g.33836C>G
NG_059186.1:g.1323C>G
NG_059271.1:g.5127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.61C>G MANE Select	ENSP00000251595.6:p.His21Asp
ENST00000251595.10:c.61C>G	ENSP00000251595.6:p.His21Asp
ENST00000397806.1:c.-2+15C>G	ENSP00000380908.1:n.-2+15C>G
ENST00000482565.1:n.80C>G
ENST00000484216.1:n.30C>G
NM_000517.4:c.61C>G	NP_000508.1:p.His21Asp
NM_000517.6:c.61C>G MANE Select	NP_000508.1:p.His21Asp