Canonical Allele Identifier: CA973582083
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1902055273
gnomAD v3: 16-173395-GA-G
gnomAD v4: 16-173395-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173396del , CM000678.2:g.173396del GRCh38
NC_000016.9:g.223395del , CM000678.1:g.223395del GRCh37
NC_000016.8:g.163395del NCBI36
NG_000006.1:g.34259del
NG_059186.1:g.1746del
NG_059271.1:g.5550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+67del MANE Select ENSP00000251595.6:n.300+67del
ENST00000251595.10:c.300+67del ENSP00000251595.6:n.300+67del
ENST00000397806.1:c.204+67del ENSP00000380908.1:n.204+67del
ENST00000482565.1:n.436+67del
ENST00000484216.1:n.336del
NM_000517.4:c.300+67del NP_000508.1:n.300+67del
NM_000517.6:c.300+67del MANE Select NP_000508.1:n.300+67del
Search 100 bp 5'
Search 100 bp 3'