Canonical Allele Identifier: CA276414956
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330040
ClinVar RCV Id: RCV001801057
dbSNP Id: rs281864777
gnomAD v4: 16-173285-G-T
MyVariant Identifiers: chr16:g.223284G>T (hg19) chr16:g.173285G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173285G>T , CM000678.2:g.173285G>T GRCh38
NC_000016.9:g.223284G>T , CM000678.1:g.223284G>T GRCh37
NC_000016.8:g.163284G>T NCBI36
NG_000006.1:g.34148G>T
NG_059186.1:g.1635G>T
NG_059271.1:g.5439G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.256G>T MANE Select ENSP00000251595.6:p.Asp86Tyr
ENST00000251595.10:c.256G>T ENSP00000251595.6:p.Asp86Tyr
ENST00000397806.1:c.160G>T ENSP00000380908.1:p.Asp54Tyr
ENST00000482565.1:n.392G>T
ENST00000484216.1:n.225G>T
NM_000517.4:c.256G>T NP_000508.1:p.Asp86Tyr
NM_000517.6:c.256G>T MANE Select NP_000508.1:p.Asp86Tyr
Search 100 bp 5'
Search 100 bp 3'