Canonical Allele Identifier: CA492785652
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223593C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173594C>T , CM000678.2:g.173594C>T GRCh38
NC_000016.9:g.223593C>T , CM000678.1:g.223593C>T GRCh37
NC_000016.8:g.163593C>T NCBI36
NG_000006.1:g.34457C>T
NG_059186.1:g.1944C>T
NG_059271.1:g.5748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.423C>T MANE Select ENSP00000251595.6:p.Tyr141=
ENST00000251595.10:c.423C>T ENSP00000251595.6:p.Tyr141=
ENST00000397806.1:c.327C>T ENSP00000380908.1:p.Tyr109=
ENST00000482565.1:n.559C>T
NM_000517.4:c.423C>T NP_000508.1:p.Tyr141=
NM_000517.6:c.423C>T MANE Select NP_000508.1:p.Tyr141=