Canonical Allele Identifier: CA276415405
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679435
ClinVar RCV Id: RCV002227314 RCV003388105
dbSNP Id: rs33987053
MyVariant Identifiers: chr16:g.223519G>A (hg19) chr16:g.173520G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173520G>A , CM000678.2:g.173520G>A GRCh38
NC_000016.9:g.223519G>A , CM000678.1:g.223519G>A GRCh37
NC_000016.8:g.163519G>A NCBI36
NG_000006.1:g.34383G>A
NG_059186.1:g.1870G>A
NG_059271.1:g.5674G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.349G>A MANE Select ENSP00000251595.6:p.Glu117Lys
ENST00000251595.10:c.349G>A ENSP00000251595.6:p.Glu117Lys
ENST00000397806.1:c.253G>A ENSP00000380908.1:p.Glu85Lys
ENST00000482565.1:n.485G>A
NM_000517.4:c.349G>A NP_000508.1:p.Glu117Lys
NM_000517.6:c.349G>A MANE Select NP_000508.1:p.Glu117Lys
Search 100 bp 5'
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