Canonical Allele Identifier: CA7770108
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439773
ClinVar RCV Id: RCV000759060
dbSNP Id: rs558457816
ExAC: 16:223033 C / T
gnomAD v2: 16-223033-C-T
gnomAD v3: 16-173034-C-T
gnomAD v4: 16-173034-C-T
MyVariant Identifiers: chr16:g.223033C>T (hg19) chr16:g.173034C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173034C>T , CM000678.2:g.173034C>T GRCh38
NC_000016.9:g.223033C>T , CM000678.1:g.223033C>T GRCh37
NC_000016.8:g.163033C>T NCBI36
NG_000006.1:g.33897C>T
NG_059186.1:g.1384C>T
NG_059271.1:g.5188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.95+27C>T MANE Select ENSP00000251595.6:n.95+27C>T
ENST00000251595.10:c.95+27C>T ENSP00000251595.6:n.95+27C>T
ENST00000397806.1:c.-2+76C>T ENSP00000380908.1:n.-2+76C>T
ENST00000482565.1:n.141C>T
ENST00000484216.1:n.64+27C>T
NM_000517.4:c.95+27C>T NP_000508.1:n.95+27C>T
NM_000517.6:c.95+27C>T MANE Select NP_000508.1:n.95+27C>T
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