Canonical Allele Identifier: CA393993443
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-173196-T-G
gnomAD v4: 16-173196-T-G
MyVariant Identifiers: chr16:g.223195T>G (hg19) chr16:g.173196T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173196T>G , CM000678.2:g.173196T>G GRCh38
NC_000016.9:g.223195T>G , CM000678.1:g.223195T>G GRCh37
NC_000016.8:g.163195T>G NCBI36
NG_000006.1:g.34059T>G
NG_059186.1:g.1546T>G
NG_059271.1:g.5350T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.167T>G MANE Select ENSP00000251595.6:p.Val56Gly
ENST00000251595.10:c.167T>G ENSP00000251595.6:p.Val56Gly
ENST00000397806.1:c.71T>G ENSP00000380908.1:p.Val24Gly
ENST00000482565.1:n.303T>G
ENST00000484216.1:n.136T>G
NM_000517.4:c.167T>G NP_000508.1:p.Val56Gly
NM_000517.6:c.167T>G MANE Select NP_000508.1:p.Val56Gly
Search 100 bp 5'
Search 100 bp 3'