Canonical Allele Identifier: CA393993300
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173148C>G , CM000678.2:g.173148C>G GRCh38
NC_000016.9:g.223147C>G , CM000678.1:g.223147C>G GRCh37
NC_000016.8:g.163147C>G NCBI36
NG_000006.1:g.34011C>G
NG_059186.1:g.1498C>G
NG_059271.1:g.5302C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.119C>G MANE Select ENSP00000251595.6:p.Thr40Ser
ENST00000251595.10:c.119C>G ENSP00000251595.6:p.Thr40Ser
ENST00000397806.1:c.23C>G ENSP00000380908.1:p.Thr8Ser
ENST00000482565.1:n.255C>G
ENST00000484216.1:n.88C>G
NM_000517.4:c.119C>G NP_000508.1:p.Thr40Ser
NM_000517.6:c.119C>G MANE Select NP_000508.1:p.Thr40Ser