Canonical Allele Identifier: CA7770143
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs780256008
ExAC: 16:223422 C / A
gnomAD v2: 16-223422-C-A
gnomAD v4: 16-173423-C-A
MyVariant Identifiers: chr16:g.223422C>A (hg19) chr16:g.173423C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173423C>A , CM000678.2:g.173423C>A GRCh38
NC_000016.9:g.223422C>A , CM000678.1:g.223422C>A GRCh37
NC_000016.8:g.163422C>A NCBI36
NG_000006.1:g.34286C>A
NG_059186.1:g.1773C>A
NG_059271.1:g.5577C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-49C>A MANE Select ENSP00000251595.6:n.301-49C>A
ENST00000251595.10:c.301-49C>A ENSP00000251595.6:n.301-49C>A
ENST00000397806.1:c.205-49C>A ENSP00000380908.1:n.205-49C>A
ENST00000482565.1:n.437-49C>A
ENST00000484216.1:n.363C>A
NM_000517.4:c.301-49C>A NP_000508.1:n.301-49C>A
NM_000517.6:c.301-49C>A MANE Select NP_000508.1:n.301-49C>A
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