Canonical Allele Identifier: CA393994611
Gene: HBA2 HGNC NCBI

Linked Data

COSMIC: COSM6001926
MyVariant Identifiers: chr16:g.223561G>A (hg19) chr16:g.173562G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173562G>A , CM000678.2:g.173562G>A GRCh38
NC_000016.9:g.223561G>A , CM000678.1:g.223561G>A GRCh37
NC_000016.8:g.163561G>A NCBI36
NG_000006.1:g.34425G>A
NG_059186.1:g.1912G>A
NG_059271.1:g.5716G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.391G>A MANE Select ENSP00000251595.6:p.Ala131Thr
ENST00000251595.10:c.391G>A ENSP00000251595.6:p.Ala131Thr
ENST00000397806.1:c.295G>A ENSP00000380908.1:p.Ala99Thr
ENST00000482565.1:n.527G>A
NM_000517.4:c.391G>A NP_000508.1:p.Ala131Thr
NM_000517.6:c.391G>A MANE Select NP_000508.1:p.Ala131Thr
Search 100 bp 5'
Search 100 bp 3'