Canonical Allele Identifier: CA2630737784
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173396-A-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+67A>G MANE Select ENSP00000251595.6:n.300+67A>G
ENST00000251595.10:c.300+67A>G ENSP00000251595.6:n.300+67A>G
ENST00000397806.1:c.204+67A>G ENSP00000380908.1:n.204+67A>G
ENST00000482565.1:n.436+67A>G
ENST00000484216.1:n.336A>G
NM_000517.4:c.300+67A>G NP_000508.1:n.300+67A>G
NM_000517.6:c.300+67A>G MANE Select NP_000508.1:n.300+67A>G