Canonical Allele Identifier: CA276414554
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 993102
ClinVar RCV Id: RCV001284140 RCV001678591
dbSNP Id: rs63750776
MyVariant Identifiers: chr16:g.223134T>C (hg19) chr16:g.173135T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173135T>C , CM000678.2:g.173135T>C GRCh38
NC_000016.9:g.223134T>C , CM000678.1:g.223134T>C GRCh37
NC_000016.8:g.163134T>C NCBI36
NG_000006.1:g.33998T>C
NG_059186.1:g.1485T>C
NG_059271.1:g.5289T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.106T>C MANE Select ENSP00000251595.6:p.Ser36Pro
ENST00000251595.10:c.106T>C ENSP00000251595.6:p.Ser36Pro
ENST00000397806.1:c.10T>C ENSP00000380908.1:p.Ser4Pro
ENST00000482565.1:n.242T>C
ENST00000484216.1:n.75T>C
NM_000517.4:c.106T>C NP_000508.1:p.Ser36Pro
NM_000517.6:c.106T>C MANE Select NP_000508.1:p.Ser36Pro
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