Canonical Allele Identifier: CA393993552
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173225G>T , CM000678.2:g.173225G>T GRCh38
NC_000016.9:g.223224G>T , CM000678.1:g.223224G>T GRCh37
NC_000016.8:g.163224G>T NCBI36
NG_000006.1:g.34088G>T
NG_059186.1:g.1575G>T
NG_059271.1:g.5379G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.196G>T MANE Select ENSP00000251595.6:p.Ala66Ser
ENST00000251595.10:c.196G>T ENSP00000251595.6:p.Ala66Ser
ENST00000397806.1:c.100G>T ENSP00000380908.1:p.Ala34Ser
ENST00000482565.1:n.332G>T
ENST00000484216.1:n.165G>T
NM_000517.4:c.196G>T NP_000508.1:p.Ala66Ser
NM_000517.6:c.196G>T MANE Select NP_000508.1:p.Ala66Ser