Canonical Allele Identifier: CA125574
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173286A>T
GRCh37 chr16:g.223285A>T
Revel Score:
ENST00000251595 (MANE Select) 0.923
ENST00000534957 0.923
ENST00000397806 0.923
gnomAD v4:
chr16-173286-A-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173286A>T , CM000678.2:g.173286A>T GRCh38
NC_000016.9:g.223285A>T , CM000678.1:g.223285A>T GRCh37
NC_000016.8:g.163285A>T NCBI36
NG_000006.1:g.34149A>T
NG_059186.1:g.1636A>T
NG_059271.1:g.5440A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.257A>T MANE Select ENSP00000251595.6:p.Asp86Val
ENST00000251595.10:c.257A>T ENSP00000251595.6:p.Asp86Val
ENST00000397806.1:c.161A>T ENSP00000380908.1:p.Asp54Val
ENST00000482565.1:n.393A>T
ENST00000484216.1:n.226A>T
NM_000517.4:c.257A>T NP_000508.1:p.Asp86Val
NM_000517.6:c.257A>T MANE Select NP_000508.1:p.Asp86Val
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