Canonical Allele Identifier: CA276414830
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 810995
ClinVar RCV Id: RCV001811570
dbSNP Id: rs281864853
gnomAD v4: 16-173244-C-A
MyVariant Identifiers: chr16:g.223243C>A (hg19) chr16:g.173244C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173244C>A , CM000678.2:g.173244C>A GRCh38
NC_000016.9:g.223243C>A , CM000678.1:g.223243C>A GRCh37
NC_000016.8:g.163243C>A NCBI36
NG_000006.1:g.34107C>A
NG_059186.1:g.1594C>A
NG_059271.1:g.5398C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.215C>A MANE Select ENSP00000251595.6:p.Ala72Glu
ENST00000251595.10:c.215C>A ENSP00000251595.6:p.Ala72Glu
ENST00000397806.1:c.119C>A ENSP00000380908.1:p.Ala40Glu
ENST00000482565.1:n.351C>A
ENST00000484216.1:n.184C>A
NM_000517.4:c.215C>A NP_000508.1:p.Ala72Glu
NM_000517.6:c.215C>A MANE Select NP_000508.1:p.Ala72Glu
Search 100 bp 5'
Search 100 bp 3'