Canonical Allele Identifier: CA7770188
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173596G>A
GRCh37 chr16:g.223595G>A
Revel Score:
ENST00000251595 (MANE Select) 0.762
ENST00000534957 0.762
ENST00000397806 0.762
dbSNP:
63751282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173596G>A , CM000678.2:g.173596G>A GRCh38
NC_000016.9:g.223595G>A , CM000678.1:g.223595G>A GRCh37
NC_000016.8:g.163595G>A NCBI36
NG_000006.1:g.34459G>A
NG_059186.1:g.1946G>A
NG_059271.1:g.5750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.425G>A MANE Select ENSP00000251595.6:p.Arg142His
ENST00000251595.10:c.425G>A ENSP00000251595.6:p.Arg142His
ENST00000397806.1:c.329G>A ENSP00000380908.1:p.Arg110His
ENST00000482565.1:n.561G>A
NM_000517.4:c.425G>A NP_000508.1:p.Arg142His
NM_000517.6:c.425G>A MANE Select NP_000508.1:p.Arg142His
Search 100 bp 5'
Search 100 bp 3'