Canonical Allele Identifier: CA276415438
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173548T>A
GRCh37 chr16:g.223547T>A
Revel Score:
ENST00000251595 (MANE Select) 0.859
ENST00000534957 0.859
ENST00000397806 0.859
ClinVar RCV:
RCV001078247
ClinVar Variation:
869221
dbSNP:
41397847
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173548T>A , CM000678.2:g.173548T>A GRCh38
NC_000016.9:g.223547T>A , CM000678.1:g.223547T>A GRCh37
NC_000016.8:g.163547T>A NCBI36
NG_000006.1:g.34411T>A
NG_059186.1:g.1898T>A
NG_059271.1:g.5702T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.377T>A MANE Select ENSP00000251595.6:p.Leu126Gln
ENST00000251595.10:c.377T>A ENSP00000251595.6:p.Leu126Gln
ENST00000397806.1:c.281T>A ENSP00000380908.1:p.Leu94Gln
ENST00000482565.1:n.513T>A
NM_000517.4:c.377T>A NP_000508.1:p.Leu126Gln
NM_000517.6:c.377T>A MANE Select NP_000508.1:p.Leu126Gln
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