Canonical Allele Identifier: CA393993053
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.222961A>G (hg19) chr16:g.172962A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172962A>G , CM000678.2:g.172962A>G GRCh38
NC_000016.9:g.222961A>G , CM000678.1:g.222961A>G GRCh37
NC_000016.8:g.162961A>G NCBI36
NG_000006.1:g.33825A>G
NG_059186.1:g.1312A>G
NG_059271.1:g.5116A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.50A>G MANE Select ENSP00000251595.6:p.Lys17Arg
ENST00000251595.10:c.50A>G ENSP00000251595.6:p.Lys17Arg
ENST00000397806.1:c.-2+4A>G ENSP00000380908.1:n.-2+4A>G
ENST00000482565.1:n.69A>G
ENST00000484216.1:n.19A>G
NM_000517.4:c.50A>G NP_000508.1:p.Lys17Arg
NM_000517.6:c.50A>G MANE Select NP_000508.1:p.Lys17Arg
Search 100 bp 5'
Search 100 bp 3'