Canonical Allele Identifier: CA393993627
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223249T>G (hg19) chr16:g.173250T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173250T>G , CM000678.2:g.173250T>G GRCh38
NC_000016.9:g.223249T>G , CM000678.1:g.223249T>G GRCh37
NC_000016.8:g.163249T>G NCBI36
NG_000006.1:g.34113T>G
NG_059186.1:g.1600T>G
NG_059271.1:g.5404T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.221T>G MANE Select ENSP00000251595.6:p.Val74Gly
ENST00000251595.10:c.221T>G ENSP00000251595.6:p.Val74Gly
ENST00000397806.1:c.125T>G ENSP00000380908.1:p.Val42Gly
ENST00000482565.1:n.357T>G
ENST00000484216.1:n.190T>G
NM_000517.4:c.221T>G NP_000508.1:p.Val74Gly
NM_000517.6:c.221T>G MANE Select NP_000508.1:p.Val74Gly
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Search 100 bp 3'