Canonical Allele Identifier: CA2630737783
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173394-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173394G>C , CM000678.2:g.173394G>C GRCh38
NC_000016.9:g.223393G>C , CM000678.1:g.223393G>C GRCh37
NC_000016.8:g.163393G>C NCBI36
NG_000006.1:g.34257G>C
NG_059186.1:g.1744G>C
NG_059271.1:g.5548G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.300+65G>C MANE Select ENSP00000251595.6:n.300+65G>C
ENST00000251595.10:c.300+65G>C ENSP00000251595.6:n.300+65G>C
ENST00000397806.1:c.204+65G>C ENSP00000380908.1:n.204+65G>C
ENST00000482565.1:n.436+65G>C
ENST00000484216.1:n.334G>C
NM_000517.4:c.300+65G>C NP_000508.1:n.300+65G>C
NM_000517.6:c.300+65G>C MANE Select NP_000508.1:n.300+65G>C
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