Canonical Allele Identifier: CA393994657
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173580C>G , CM000678.2:g.173580C>G GRCh38
NC_000016.9:g.223579C>G , CM000678.1:g.223579C>G GRCh37
NC_000016.8:g.163579C>G NCBI36
NG_000006.1:g.34443C>G
NG_059186.1:g.1930C>G
NG_059271.1:g.5734C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.409C>G MANE Select ENSP00000251595.6:p.Leu137Val
ENST00000251595.10:c.409C>G ENSP00000251595.6:p.Leu137Val
ENST00000397806.1:c.313C>G ENSP00000380908.1:p.Leu105Val
ENST00000482565.1:n.545C>G
NM_000517.4:c.409C>G NP_000508.1:p.Leu137Val
NM_000517.6:c.409C>G MANE Select NP_000508.1:p.Leu137Val