Canonical Allele Identifier: CA393993250
Gene: HBA2 HGNC NCBI

Linked Data

COSMIC: COSM968598
MyVariant Identifiers: chr16:g.223131C>A (hg19) chr16:g.173132C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173132C>A , CM000678.2:g.173132C>A GRCh38
NC_000016.9:g.223131C>A , CM000678.1:g.223131C>A GRCh37
NC_000016.8:g.163131C>A NCBI36
NG_000006.1:g.33995C>A
NG_059186.1:g.1482C>A
NG_059271.1:g.5286C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.103C>A MANE Select ENSP00000251595.6:p.Leu35Met
ENST00000251595.10:c.103C>A ENSP00000251595.6:p.Leu35Met
ENST00000397806.1:c.7C>A ENSP00000380908.1:p.Leu3Met
ENST00000482565.1:n.239C>A
ENST00000484216.1:n.72C>A
NM_000517.4:c.103C>A NP_000508.1:p.Leu35Met
NM_000517.6:c.103C>A MANE Select NP_000508.1:p.Leu35Met
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