Canonical Allele Identifier: CA276414288
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864556
MyVariant Identifiers: chr16:g.222922C>G (hg19) chr16:g.172923C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172923C>G , CM000678.2:g.172923C>G GRCh38
NC_000016.9:g.222922C>G , CM000678.1:g.222922C>G GRCh37
NC_000016.8:g.162922C>G NCBI36
NG_000006.1:g.33786C>G
NG_059186.1:g.1273C>G
NG_059271.1:g.5077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.11C>G MANE Select ENSP00000251595.6:p.Ser4Cys
ENST00000251595.10:c.11C>G ENSP00000251595.6:p.Ser4Cys
ENST00000397806.1:c.-37C>G ENSP00000380908.1:n.-37C>G
ENST00000482565.1:n.30C>G
NM_000517.4:c.11C>G NP_000508.1:p.Ser4Cys
NM_000517.6:c.11C>G MANE Select NP_000508.1:p.Ser4Cys
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Search 100 bp 3'