Canonical Allele Identifier: CA276415410
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173520G>C
GRCh37 chr16:g.223519G>C
Revel Score:
ENST00000251595 (MANE Select) 0.503
ENST00000534957 0.503
ENST00000397806 0.503
ClinVar RCV:
RCV004997905
ClinVar Variation:
3572113
dbSNP:
33987053
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173520G>C , CM000678.2:g.173520G>C GRCh38
NC_000016.9:g.223519G>C , CM000678.1:g.223519G>C GRCh37
NC_000016.8:g.163519G>C NCBI36
NG_000006.1:g.34383G>C
NG_059186.1:g.1870G>C
NG_059271.1:g.5674G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.349G>C MANE Select ENSP00000251595.6:p.Glu117Gln
ENST00000251595.10:c.349G>C ENSP00000251595.6:p.Glu117Gln
ENST00000397806.1:c.253G>C ENSP00000380908.1:p.Glu85Gln
ENST00000482565.1:n.485G>C
NM_000517.4:c.349G>C NP_000508.1:p.Glu117Gln
NM_000517.6:c.349G>C MANE Select NP_000508.1:p.Glu117Gln
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