Canonical Allele Identifier: CA393993177
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173000C>G , CM000678.2:g.173000C>G GRCh38
NC_000016.9:g.222999C>G , CM000678.1:g.222999C>G GRCh37
NC_000016.8:g.162999C>G NCBI36
NG_000006.1:g.33863C>G
NG_059186.1:g.1350C>G
NG_059271.1:g.5154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.88C>G MANE Select ENSP00000251595.6:p.Leu30Val
ENST00000251595.10:c.88C>G ENSP00000251595.6:p.Leu30Val
ENST00000397806.1:c.-2+42C>G ENSP00000380908.1:n.-2+42C>G
ENST00000482565.1:n.107C>G
ENST00000484216.1:n.57C>G
NM_000517.4:c.88C>G NP_000508.1:p.Leu30Val
NM_000517.6:c.88C>G MANE Select NP_000508.1:p.Leu30Val