Canonical Allele Identifier: CA492994263
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1211328339
gnomAD v2: 16-223004-G-A
gnomAD v4: 16-173005-G-A
MyVariant Identifiers: chr16:g.223004G>A (hg19) chr16:g.173005G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173005G>A , CM000678.2:g.173005G>A GRCh38
NC_000016.9:g.223004G>A , CM000678.1:g.223004G>A GRCh37
NC_000016.8:g.163004G>A NCBI36
NG_000006.1:g.33868G>A
NG_059186.1:g.1355G>A
NG_059271.1:g.5159G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.93G>A MANE Select ENSP00000251595.6:p.Glu31=
ENST00000251595.10:c.93G>A ENSP00000251595.6:p.Glu31=
ENST00000397806.1:c.-2+47G>A ENSP00000380908.1:n.-2+47G>A
ENST00000482565.1:n.112G>A
ENST00000484216.1:n.62G>A
NM_000517.4:c.93G>A NP_000508.1:p.Glu31=
NM_000517.6:c.93G>A MANE Select NP_000508.1:p.Glu31=
Search 100 bp 5'
Search 100 bp 3'