Canonical Allele Identifier: CA393994396
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1263969213
gnomAD v2: 16-223483-T-A
gnomAD v4: 16-173484-T-A
MyVariant Identifiers: chr16:g.223483T>A (hg19) chr16:g.173484T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173484T>A , CM000678.2:g.173484T>A GRCh38
NC_000016.9:g.223483T>A , CM000678.1:g.223483T>A GRCh37
NC_000016.8:g.163483T>A NCBI36
NG_000006.1:g.34347T>A
NG_059186.1:g.1834T>A
NG_059271.1:g.5638T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.313T>A MANE Select ENSP00000251595.6:p.Cys105Ser
ENST00000251595.10:c.313T>A ENSP00000251595.6:p.Cys105Ser
ENST00000397806.1:c.217T>A ENSP00000380908.1:p.Cys73Ser
ENST00000482565.1:n.449T>A
NM_000517.4:c.313T>A NP_000508.1:p.Cys105Ser
NM_000517.6:c.313T>A MANE Select NP_000508.1:p.Cys105Ser
Search 100 bp 5'
Search 100 bp 3'