Canonical Allele Identifier: CA276415165
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs111753277
gnomAD v2: 16-223391-G-C
gnomAD v3: 16-173392-G-C
gnomAD v4: 16-173392-G-C
MyVariant Identifiers: chr16:g.223391G>C (hg19) chr16:g.173392G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173392G>C , CM000678.2:g.173392G>C GRCh38
NC_000016.9:g.223391G>C , CM000678.1:g.223391G>C GRCh37
NC_000016.8:g.163391G>C NCBI36
NG_000006.1:g.34255G>C
NG_059186.1:g.1742G>C
NG_059271.1:g.5546G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+63G>C MANE Select ENSP00000251595.6:n.300+63G>C
ENST00000251595.10:c.300+63G>C ENSP00000251595.6:n.300+63G>C
ENST00000397806.1:c.204+63G>C ENSP00000380908.1:n.204+63G>C
ENST00000482565.1:n.436+63G>C
ENST00000484216.1:n.332G>C
NM_000517.4:c.300+63G>C NP_000508.1:n.300+63G>C
NM_000517.6:c.300+63G>C MANE Select NP_000508.1:n.300+63G>C
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