Canonical Allele Identifier: CA2630737787
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173398-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173398C>T , CM000678.2:g.173398C>T GRCh38
NC_000016.9:g.223397C>T , CM000678.1:g.223397C>T GRCh37
NC_000016.8:g.163397C>T NCBI36
NG_000006.1:g.34261C>T
NG_059186.1:g.1748C>T
NG_059271.1:g.5552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+69C>T MANE Select ENSP00000251595.6:n.300+69C>T
ENST00000251595.10:c.300+69C>T ENSP00000251595.6:n.300+69C>T
ENST00000397806.1:c.204+69C>T ENSP00000380908.1:n.204+69C>T
ENST00000482565.1:n.436+69C>T
ENST00000484216.1:n.338C>T
NM_000517.4:c.300+69C>T NP_000508.1:n.300+69C>T
NM_000517.6:c.300+69C>T MANE Select NP_000508.1:n.300+69C>T
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