Canonical Allele Identifier: CA7770152
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 993105
ClinVar RCV Id: RCV001284146
dbSNP Id: rs770649322
ExAC: 16:223436 G / A
gnomAD v2: 16-223436-G-A
gnomAD v4: 16-173437-G-A
MyVariant Identifiers: chr16:g.223436G>A (hg19) chr16:g.173437G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173437G>A , CM000678.2:g.173437G>A GRCh38
NC_000016.9:g.223436G>A , CM000678.1:g.223436G>A GRCh37
NC_000016.8:g.163436G>A NCBI36
NG_000006.1:g.34300G>A
NG_059186.1:g.1787G>A
NG_059271.1:g.5591G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-35G>A MANE Select ENSP00000251595.6:n.301-35G>A
ENST00000251595.10:c.301-35G>A ENSP00000251595.6:n.301-35G>A
ENST00000397806.1:c.205-35G>A ENSP00000380908.1:n.205-35G>A
ENST00000482565.1:n.437-35G>A
ENST00000484216.1:n.377G>A
NM_000517.4:c.301-35G>A NP_000508.1:n.301-35G>A
NM_000517.6:c.301-35G>A MANE Select NP_000508.1:n.301-35G>A
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