Canonical Allele Identifier: CA125656
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173273T>C
GRCh37 chr16:g.223272T>C
Revel Score:
ENST00000251595 (MANE Select) 0.728
ENST00000534957 0.728
ENST00000397806 0.728
ClinVar RCV:
RCV000016980
ClinVar Variation:
15689
dbSNP:
41484451
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173273T>C , CM000678.2:g.173273T>C GRCh38
NC_000016.9:g.223272T>C , CM000678.1:g.223272T>C GRCh37
NC_000016.8:g.163272T>C NCBI36
NG_000006.1:g.34136T>C
NG_059186.1:g.1623T>C
NG_059271.1:g.5427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.244T>C MANE Select ENSP00000251595.6:p.Ser82Pro
ENST00000251595.10:c.244T>C ENSP00000251595.6:p.Ser82Pro
ENST00000397806.1:c.148T>C ENSP00000380908.1:p.Ser50Pro
ENST00000482565.1:n.380T>C
ENST00000484216.1:n.213T>C
NM_000517.4:c.244T>C NP_000508.1:p.Ser82Pro
NM_000517.6:c.244T>C MANE Select NP_000508.1:p.Ser82Pro
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