Canonical Allele Identifier: CA7770117
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs781228800
ExAC: 16:223274 C / T
gnomAD v2: 16-223274-C-T
gnomAD v3: 16-173275-C-T
gnomAD v4: 16-173275-C-T
MyVariant Identifiers: chr16:g.223274C>T (hg19) chr16:g.173275C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173275C>T , CM000678.2:g.173275C>T GRCh38
NC_000016.9:g.223274C>T , CM000678.1:g.223274C>T GRCh37
NC_000016.8:g.163274C>T NCBI36
NG_000006.1:g.34138C>T
NG_059186.1:g.1625C>T
NG_059271.1:g.5429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.246C>T MANE Select ENSP00000251595.6:p.Ser82=
ENST00000251595.10:c.246C>T ENSP00000251595.6:p.Ser82=
ENST00000397806.1:c.150C>T ENSP00000380908.1:p.Ser50=
ENST00000482565.1:n.382C>T
ENST00000484216.1:n.215C>T
NM_000517.4:c.246C>T NP_000508.1:p.Ser82=
NM_000517.6:c.246C>T MANE Select NP_000508.1:p.Ser82=
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