Canonical Allele Identifier: CA393993520
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223218G>C (hg19) chr16:g.173219G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173219G>C , CM000678.2:g.173219G>C GRCh38
NC_000016.9:g.223218G>C , CM000678.1:g.223218G>C GRCh37
NC_000016.8:g.163218G>C NCBI36
NG_000006.1:g.34082G>C
NG_059186.1:g.1569G>C
NG_059271.1:g.5373G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.190G>C MANE Select ENSP00000251595.6:p.Ala64Pro
ENST00000251595.10:c.190G>C ENSP00000251595.6:p.Ala64Pro
ENST00000397806.1:c.94G>C ENSP00000380908.1:p.Ala32Pro
ENST00000482565.1:n.326G>C
ENST00000484216.1:n.159G>C
NM_000517.4:c.190G>C NP_000508.1:p.Ala64Pro
NM_000517.6:c.190G>C MANE Select NP_000508.1:p.Ala64Pro
Search 100 bp 5'
Search 100 bp 3'