Canonical Allele Identifier: CA276415192
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs979202574
gnomAD v2: 16-223408-C-T
gnomAD v3: 16-173409-C-T
gnomAD v4: 16-173409-C-T
MyVariant Identifiers: chr16:g.223408C>T (hg19) chr16:g.173409C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173409C>T , CM000678.2:g.173409C>T GRCh38
NC_000016.9:g.223408C>T , CM000678.1:g.223408C>T GRCh37
NC_000016.8:g.163408C>T NCBI36
NG_000006.1:g.34272C>T
NG_059186.1:g.1759C>T
NG_059271.1:g.5563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-63C>T MANE Select ENSP00000251595.6:n.301-63C>T
ENST00000251595.10:c.301-63C>T ENSP00000251595.6:n.301-63C>T
ENST00000397806.1:c.205-63C>T ENSP00000380908.1:n.205-63C>T
ENST00000482565.1:n.437-63C>T
ENST00000484216.1:n.349C>T
NM_000517.4:c.301-63C>T NP_000508.1:n.301-63C>T
NM_000517.6:c.301-63C>T MANE Select NP_000508.1:n.301-63C>T
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