Canonical Allele Identifier: CA718606584
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1416169627
gnomAD v3: 16-173048-G-T
gnomAD v4: 16-173048-G-T
MyVariant Identifiers: chr16:g.223047G>T (hg19) chr16:g.173048G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173048G>T , CM000678.2:g.173048G>T GRCh38
NC_000016.9:g.223047G>T , CM000678.1:g.223047G>T GRCh37
NC_000016.8:g.163047G>T NCBI36
NG_000006.1:g.33911G>T
NG_059186.1:g.1398G>T
NG_059271.1:g.5202G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.95+41G>T MANE Select ENSP00000251595.6:n.95+41G>T
ENST00000251595.10:c.95+41G>T ENSP00000251595.6:n.95+41G>T
ENST00000397806.1:c.-1-77G>T ENSP00000380908.1:n.-1-77G>T
ENST00000482565.1:n.155G>T
ENST00000484216.1:n.64+41G>T
NM_000517.4:c.95+41G>T NP_000508.1:n.95+41G>T
NM_000517.6:c.95+41G>T MANE Select NP_000508.1:n.95+41G>T
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