Canonical Allele Identifier: CA125635
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15675
ClinVar RCV Id: RCV000016961
dbSNP Id: rs281864881

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173315C>T , CM000678.2:g.173315C>T GRCh38
NC_000016.9:g.223314C>T , CM000678.1:g.223314C>T GRCh37
NC_000016.8:g.163314C>T NCBI36
NG_000006.1:g.34178C>T
NG_059186.1:g.1665C>T
NG_059271.1:g.5469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.286C>T MANE Select ENSP00000251595.6:p.Pro96Ser
ENST00000251595.10:c.286C>T ENSP00000251595.6:p.Pro96Ser
ENST00000397806.1:c.190C>T ENSP00000380908.1:p.Pro64Ser
ENST00000482565.1:n.422C>T
ENST00000484216.1:n.255C>T
NM_000517.4:c.286C>T NP_000508.1:p.Pro96Ser
NM_000517.6:c.286C>T MANE Select NP_000508.1:p.Pro96Ser