Canonical Allele Identifier: CA393993455
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173201-G-T
MyVariant Identifiers: chr16:g.223200G>T (hg19) chr16:g.173201G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173201G>T , CM000678.2:g.173201G>T GRCh38
NC_000016.9:g.223200G>T , CM000678.1:g.223200G>T GRCh37
NC_000016.8:g.163200G>T NCBI36
NG_000006.1:g.34064G>T
NG_059186.1:g.1551G>T
NG_059271.1:g.5355G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.172G>T MANE Select ENSP00000251595.6:p.Gly58Cys
ENST00000251595.10:c.172G>T ENSP00000251595.6:p.Gly58Cys
ENST00000397806.1:c.76G>T ENSP00000380908.1:p.Gly26Cys
ENST00000482565.1:n.308G>T
ENST00000484216.1:n.141G>T
NM_000517.4:c.172G>T NP_000508.1:p.Gly58Cys
NM_000517.6:c.172G>T MANE Select NP_000508.1:p.Gly58Cys
Search 100 bp 5'
Search 100 bp 3'