Canonical Allele Identifier: CA276414354
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 801175
ClinVar RCV Id: RCV000985725
dbSNP Id: rs281860609
gnomAD v4: 16-172952-G-C
MyVariant Identifiers: chr16:g.222951G>C (hg19) chr16:g.172952G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172952G>C , CM000678.2:g.172952G>C GRCh38
NC_000016.9:g.222951G>C , CM000678.1:g.222951G>C GRCh37
NC_000016.8:g.162951G>C NCBI36
NG_000006.1:g.33815G>C
NG_059186.1:g.1302G>C
NG_059271.1:g.5106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.40G>C MANE Select ENSP00000251595.6:p.Ala14Pro
ENST00000251595.10:c.40G>C ENSP00000251595.6:p.Ala14Pro
ENST00000397806.1:c.-8G>C ENSP00000380908.1:n.-8G>C
ENST00000482565.1:n.59G>C
ENST00000484216.1:n.9G>C
NM_000517.4:c.40G>C NP_000508.1:p.Ala14Pro
NM_000517.6:c.40G>C MANE Select NP_000508.1:p.Ala14Pro
Search 100 bp 5'
Search 100 bp 3'