Canonical Allele Identifier: CA276414659
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173179C>A
GRCh37 chr16:g.223178C>A
Revel Score:
ENST00000251595 (MANE Select) 0.730
ENST00000534957 0.730
ENST00000397806 0.730
ClinVar RCV:
RCV000017149
RCV002476984
ClinVar Variation:
15808
dbSNP:
41518249
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173179C>A , CM000678.2:g.173179C>A GRCh38
NC_000016.9:g.223178C>A , CM000678.1:g.223178C>A GRCh37
NC_000016.8:g.163178C>A NCBI36
NG_000006.1:g.34042C>A
NG_059186.1:g.1529C>A
NG_059271.1:g.5333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.150C>A MANE Select ENSP00000251595.6:p.Ser50Arg
ENST00000251595.10:c.150C>A ENSP00000251595.6:p.Ser50Arg
ENST00000397806.1:c.54C>A ENSP00000380908.1:p.Ser18Arg
ENST00000482565.1:n.286C>A
ENST00000484216.1:n.119C>A
NM_000517.4:c.150C>A NP_000508.1:p.Ser50Arg
NM_000517.6:c.150C>A MANE Select NP_000508.1:p.Ser50Arg
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