Canonical Allele Identifier: CA125561
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15632
ClinVar RCV Id: RCV000016899 RCV001078246
dbSNP Id: rs41479844
MyVariant Identifiers: chr16:g.223499T>G (hg19) chr16:g.173500T>G (hg38)
PubMed: PMID:478977 PMID:2265255 PMID:2384313 PMID:15481883
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173500T>G , CM000678.2:g.173500T>G GRCh38
NC_000016.9:g.223499T>G , CM000678.1:g.223499T>G GRCh37
NC_000016.8:g.163499T>G NCBI36
NG_000006.1:g.34363T>G
NG_059186.1:g.1850T>G
NG_059271.1:g.5654T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.329T>G MANE Select ENSP00000251595.6:p.Leu110Arg
ENST00000251595.10:c.329T>G ENSP00000251595.6:p.Leu110Arg
ENST00000397806.1:c.233T>G ENSP00000380908.1:p.Leu78Arg
ENST00000482565.1:n.465T>G
NM_000517.4:c.329T>G NP_000508.1:p.Leu110Arg
NM_000517.6:c.329T>G MANE Select NP_000508.1:p.Leu110Arg
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