Canonical Allele Identifier: CA7770181
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439771
ClinVar RCV Id: RCV000985723
dbSNP Id: rs41479347
ExAC: 16:223539 C / G
gnomAD v2: 16-223539-C-G
gnomAD v3: 16-173540-C-G
gnomAD v4: 16-173540-C-G
COSMIC: COSM4578821
MyVariant Identifiers: chr16:g.223539C>G (hg19) chr16:g.173540C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173540C>G , CM000678.2:g.173540C>G GRCh38
NC_000016.9:g.223539C>G , CM000678.1:g.223539C>G GRCh37
NC_000016.8:g.163539C>G NCBI36
NG_000006.1:g.34403C>G
NG_059186.1:g.1890C>G
NG_059271.1:g.5694C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.369C>G MANE Select ENSP00000251595.6:p.His123Gln
ENST00000251595.10:c.369C>G ENSP00000251595.6:p.His123Gln
ENST00000397806.1:c.273C>G ENSP00000380908.1:p.His91Gln
ENST00000482565.1:n.505C>G
NM_000517.4:c.369C>G NP_000508.1:p.His123Gln
NM_000517.6:c.369C>G MANE Select NP_000508.1:p.His123Gln
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