Canonical Allele Identifier: CA276415466
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173560T>C
GRCh37 chr16:g.223559T>C
Revel Score:
ENST00000251595 (MANE Select) 0.787
ENST00000534957 0.787
ENST00000397806 0.787
ClinVar Allele:
2852648
ClinVar RCV:
RCV003486522
ClinVar Variation:
2691625
dbSNP:
281864889
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173560T>C , CM000678.2:g.173560T>C GRCh38
NC_000016.9:g.223559T>C , CM000678.1:g.223559T>C GRCh37
NC_000016.8:g.163559T>C NCBI36
NG_000006.1:g.34423T>C
NG_059186.1:g.1910T>C
NG_059271.1:g.5714T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.389T>C MANE Select ENSP00000251595.6:p.Leu130Pro
ENST00000251595.10:c.389T>C ENSP00000251595.6:p.Leu130Pro
ENST00000397806.1:c.293T>C ENSP00000380908.1:p.Leu98Pro
ENST00000482565.1:n.525T>C
NM_000517.4:c.389T>C NP_000508.1:p.Leu130Pro
NM_000517.6:c.389T>C MANE Select NP_000508.1:p.Leu130Pro
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