Canonical Allele Identifier: CA393993813
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223288T>C (hg19) chr16:g.173289T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173289T>C , CM000678.2:g.173289T>C GRCh38
NC_000016.9:g.223288T>C , CM000678.1:g.223288T>C GRCh37
NC_000016.8:g.163288T>C NCBI36
NG_000006.1:g.34152T>C
NG_059186.1:g.1639T>C
NG_059271.1:g.5443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.260T>C MANE Select ENSP00000251595.6:p.Leu87Pro
ENST00000251595.10:c.260T>C ENSP00000251595.6:p.Leu87Pro
ENST00000397806.1:c.164T>C ENSP00000380908.1:p.Leu55Pro
ENST00000482565.1:n.396T>C
ENST00000484216.1:n.229T>C
NM_000517.4:c.260T>C NP_000508.1:p.Leu87Pro
NM_000517.6:c.260T>C MANE Select NP_000508.1:p.Leu87Pro
Search 100 bp 5'
Search 100 bp 3'