Canonical Allele Identifier: CA125580
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15642
ClinVar RCV Id: RCV000016928
dbSNP Id: rs111033602
MyVariant Identifiers: chr16:g.223263A>C (hg19) chr16:g.173264A>C (hg38)
PubMed: PMID:2101836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173264A>C , CM000678.2:g.173264A>C GRCh38
NC_000016.9:g.223263A>C , CM000678.1:g.223263A>C GRCh37
NC_000016.8:g.163263A>C NCBI36
NG_000006.1:g.34127A>C
NG_059186.1:g.1614A>C
NG_059271.1:g.5418A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.235A>C MANE Select ENSP00000251595.6:p.Asn79His
ENST00000251595.10:c.235A>C ENSP00000251595.6:p.Asn79His
ENST00000397806.1:c.139A>C ENSP00000380908.1:p.Asn47His
ENST00000482565.1:n.371A>C
ENST00000484216.1:n.204A>C
NM_000517.4:c.235A>C NP_000508.1:p.Asn79His
NM_000517.6:c.235A>C MANE Select NP_000508.1:p.Asn79His
Search 100 bp 5'
Search 100 bp 3'