Canonical Allele Identifier: CA7770164
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 619681
ClinVar RCV Id: RCV000759052
dbSNP Id: rs751285512
ExAC: 16:223454 C / G
gnomAD v2: 16-223454-C-G
gnomAD v3: 16-173455-C-G
gnomAD v4: 16-173455-C-G
MyVariant Identifiers: chr16:g.223454C>G (hg19) chr16:g.173455C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173455C>G , CM000678.2:g.173455C>G GRCh38
NC_000016.9:g.223454C>G , CM000678.1:g.223454C>G GRCh37
NC_000016.8:g.163454C>G NCBI36
NG_000006.1:g.34318C>G
NG_059186.1:g.1805C>G
NG_059271.1:g.5609C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.301-17C>G MANE Select ENSP00000251595.6:n.301-17C>G
ENST00000251595.10:c.301-17C>G ENSP00000251595.6:n.301-17C>G
ENST00000397806.1:c.205-17C>G ENSP00000380908.1:n.205-17C>G
ENST00000482565.1:n.437-17C>G
ENST00000484216.1:n.395C>G
NM_000517.4:c.301-17C>G NP_000508.1:n.301-17C>G
NM_000517.6:c.301-17C>G MANE Select NP_000508.1:n.301-17C>G
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