Canonical Allele Identifier: CA276414694
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 994322
ClinVar RCV Id: RCV001810570
dbSNP Id: rs281864842
MyVariant Identifiers: chr16:g.223197A>G (hg19) chr16:g.173198A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173198A>G , CM000678.2:g.173198A>G GRCh38
NC_000016.9:g.223197A>G , CM000678.1:g.223197A>G GRCh37
NC_000016.8:g.163197A>G NCBI36
NG_000006.1:g.34061A>G
NG_059186.1:g.1548A>G
NG_059271.1:g.5352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.169A>G MANE Select ENSP00000251595.6:p.Lys57Glu
ENST00000251595.10:c.169A>G ENSP00000251595.6:p.Lys57Glu
ENST00000397806.1:c.73A>G ENSP00000380908.1:p.Lys25Glu
ENST00000482565.1:n.305A>G
ENST00000484216.1:n.138A>G
NM_000517.4:c.169A>G NP_000508.1:p.Lys57Glu
NM_000517.6:c.169A>G MANE Select NP_000508.1:p.Lys57Glu
Search 100 bp 5'
Search 100 bp 3'