Canonical Allele Identifier: CA7770162
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs762931462
ExAC: 16:223453 A / C
gnomAD v2: 16-223453-A-C
gnomAD v3: 16-173454-A-C
gnomAD v4: 16-173454-A-C
MyVariant Identifiers: chr16:g.223453A>C (hg19) chr16:g.173454A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173454A>C , CM000678.2:g.173454A>C GRCh38
NC_000016.9:g.223453A>C , CM000678.1:g.223453A>C GRCh37
NC_000016.8:g.163453A>C NCBI36
NG_000006.1:g.34317A>C
NG_059186.1:g.1804A>C
NG_059271.1:g.5608A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-18A>C MANE Select ENSP00000251595.6:n.301-18A>C
ENST00000251595.10:c.301-18A>C ENSP00000251595.6:n.301-18A>C
ENST00000397806.1:c.205-18A>C ENSP00000380908.1:n.205-18A>C
ENST00000482565.1:n.437-18A>C
ENST00000484216.1:n.394A>C
NM_000517.4:c.301-18A>C NP_000508.1:n.301-18A>C
NM_000517.6:c.301-18A>C MANE Select NP_000508.1:n.301-18A>C
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