Canonical Allele Identifier: CA393993338
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223159T>C (hg19) chr16:g.173160T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173160T>C , CM000678.2:g.173160T>C GRCh38
NC_000016.9:g.223159T>C , CM000678.1:g.223159T>C GRCh37
NC_000016.8:g.163159T>C NCBI36
NG_000006.1:g.34023T>C
NG_059186.1:g.1510T>C
NG_059271.1:g.5314T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.131T>C MANE Select ENSP00000251595.6:p.Phe44Ser
ENST00000251595.10:c.131T>C ENSP00000251595.6:p.Phe44Ser
ENST00000397806.1:c.35T>C ENSP00000380908.1:p.Phe12Ser
ENST00000482565.1:n.267T>C
ENST00000484216.1:n.100T>C
NM_000517.4:c.131T>C NP_000508.1:p.Phe44Ser
NM_000517.6:c.131T>C MANE Select NP_000508.1:p.Phe44Ser
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