Canonical Allele Identifier: CA620304250
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1438716426
gnomAD v2: 16-223074-G-A
gnomAD v3: 16-173075-G-A
gnomAD v4: 16-173075-G-A
MyVariant Identifiers: chr16:g.223074G>A (hg19) chr16:g.173075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173075G>A , CM000678.2:g.173075G>A GRCh38
NC_000016.9:g.223074G>A , CM000678.1:g.223074G>A GRCh37
NC_000016.8:g.163074G>A NCBI36
NG_000006.1:g.33938G>A
NG_059186.1:g.1425G>A
NG_059271.1:g.5229G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.96-50G>A MANE Select ENSP00000251595.6:n.96-50G>A
ENST00000251595.10:c.96-50G>A ENSP00000251595.6:n.96-50G>A
ENST00000397806.1:c.-1-50G>A ENSP00000380908.1:n.-1-50G>A
ENST00000482565.1:n.182G>A
ENST00000484216.1:n.65-50G>A
NM_000517.4:c.96-50G>A NP_000508.1:n.96-50G>A
NM_000517.6:c.96-50G>A MANE Select NP_000508.1:n.96-50G>A
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