Canonical Allele Identifier: CA393993038
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330495
ClinVar RCV Id: RCV001810823
dbSNP Id: rs63750367
gnomAD v4: 16-172957-G-A
MyVariant Identifiers: chr16:g.222956G>A (hg19) chr16:g.172957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172957G>A , CM000678.2:g.172957G>A GRCh38
NC_000016.9:g.222956G>A , CM000678.1:g.222956G>A GRCh37
NC_000016.8:g.162956G>A NCBI36
NG_000006.1:g.33820G>A
NG_059186.1:g.1307G>A
NG_059271.1:g.5111G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.45G>A MANE Select ENSP00000251595.6:p.Trp15Ter
ENST00000251595.10:c.45G>A ENSP00000251595.6:p.Trp15Ter
ENST00000397806.1:c.-3G>A ENSP00000380908.1:n.-3G>A
ENST00000482565.1:n.64G>A
ENST00000484216.1:n.14G>A
NM_000517.4:c.45G>A NP_000508.1:p.Trp15Ter
NM_000517.6:c.45G>A MANE Select NP_000508.1:p.Trp15Ter
Search 100 bp 5'
Search 100 bp 3'