Canonical Allele Identifier: CA393992981
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1377677959
gnomAD v2: 16-222943-T-C
gnomAD v4: 16-172944-T-C
MyVariant Identifiers: chr16:g.222943T>C (hg19) chr16:g.172944T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172944T>C , CM000678.2:g.172944T>C GRCh38
NC_000016.9:g.222943T>C , CM000678.1:g.222943T>C GRCh37
NC_000016.8:g.162943T>C NCBI36
NG_000006.1:g.33807T>C
NG_059186.1:g.1294T>C
NG_059271.1:g.5098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.32T>C MANE Select ENSP00000251595.6:p.Val11Ala
ENST00000251595.10:c.32T>C ENSP00000251595.6:p.Val11Ala
ENST00000397806.1:c.-16T>C ENSP00000380908.1:n.-16T>C
ENST00000482565.1:n.51T>C
ENST00000484216.1:n.1T>C
NM_000517.4:c.32T>C NP_000508.1:p.Val11Ala
NM_000517.6:c.32T>C MANE Select NP_000508.1:p.Val11Ala
Search 100 bp 5'
Search 100 bp 3'