Canonical Allele Identifier: CA393993044
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683493
ClinVar RCV Id: RCV002243538
dbSNP Id: rs281864811
MyVariant Identifiers: chr16:g.222957G>T (hg19) chr16:g.172958G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172958G>T , CM000678.2:g.172958G>T GRCh38
NC_000016.9:g.222957G>T , CM000678.1:g.222957G>T GRCh37
NC_000016.8:g.162957G>T NCBI36
NG_000006.1:g.33821G>T
NG_059186.1:g.1308G>T
NG_059271.1:g.5112G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.46G>T MANE Select ENSP00000251595.6:p.Gly16Cys
ENST00000251595.10:c.46G>T ENSP00000251595.6:p.Gly16Cys
ENST00000397806.1:c.-2G>T ENSP00000380908.1:n.-2G>T
ENST00000482565.1:n.65G>T
ENST00000484216.1:n.15G>T
NM_000517.4:c.46G>T NP_000508.1:p.Gly16Cys
NM_000517.6:c.46G>T MANE Select NP_000508.1:p.Gly16Cys
Search 100 bp 5'
Search 100 bp 3'