Canonical Allele Identifier: CA393993835
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2315898
ClinVar RCV Id: RCV002888530
MyVariant Identifiers: chr16:g.223293G>C (hg19) chr16:g.173294G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173294G>C , CM000678.2:g.173294G>C GRCh38
NC_000016.9:g.223293G>C , CM000678.1:g.223293G>C GRCh37
NC_000016.8:g.163293G>C NCBI36
NG_000006.1:g.34157G>C
NG_059186.1:g.1644G>C
NG_059271.1:g.5448G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.265G>C MANE Select ENSP00000251595.6:p.Ala89Pro
ENST00000251595.10:c.265G>C ENSP00000251595.6:p.Ala89Pro
ENST00000397806.1:c.169G>C ENSP00000380908.1:p.Ala57Pro
ENST00000482565.1:n.401G>C
ENST00000484216.1:n.234G>C
NM_000517.4:c.265G>C NP_000508.1:p.Ala89Pro
NM_000517.6:c.265G>C MANE Select NP_000508.1:p.Ala89Pro
Search 100 bp 5'
Search 100 bp 3'