Canonical Allele Identifier: CA2695221220
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173217_173219del , CM000678.2:g.173217_173219del GRCh38
NC_000016.9:g.223216_223218del , CM000678.1:g.223216_223218del GRCh37
NC_000016.8:g.163216_163218del NCBI36
NG_000006.1:g.34080_34082del
NG_059186.1:g.1567_1569del
NG_059271.1:g.5371_5373del

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.188_190del MANE Select ENSP00000251595.6:p.Val63del
ENST00000251595.10:c.188_190del ENSP00000251595.6:p.Val63del
ENST00000397806.1:c.92_94del ENSP00000380908.1:p.Val31del
ENST00000482565.1:n.324_326del
ENST00000484216.1:n.157_159del
NM_000517.4:c.188_190del NP_000508.1:p.Val63del
NM_000517.6:c.188_190del MANE Select NP_000508.1:p.Val63del