Canonical Allele Identifier: CA7770194
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs781677760
ExAC: 16:223613 T / G
gnomAD v2: 16-223613-T-G
gnomAD v4: 16-173614-T-G
MyVariant Identifiers: chr16:g.223613T>G (hg19) chr16:g.173614T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173614T>G , CM000678.2:g.173614T>G GRCh38
NC_000016.9:g.223613T>G , CM000678.1:g.223613T>G GRCh37
NC_000016.8:g.163613T>G NCBI36
NG_000006.1:g.34477T>G
NG_059186.1:g.1964T>G
NG_059271.1:g.5768T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.*14T>G MANE Select ENSP00000251595.6:n.*14T>G
ENST00000251595.10:c.*14T>G ENSP00000251595.6:n.*14T>G
ENST00000397806.1:c.*14T>G ENSP00000380908.1:n.*14T>G
ENST00000482565.1:n.579T>G
NM_000517.4:c.*14T>G NP_000508.1:n.*14T>G
NM_000517.6:c.*14T>G MANE Select NP_000508.1:n.*14T>G
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