Canonical Allele Identifier: CA276415039
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864874
MyVariant Identifiers: chr16:g.223303T>C (hg19) chr16:g.173304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173304T>C , CM000678.2:g.173304T>C GRCh38
NC_000016.9:g.223303T>C , CM000678.1:g.223303T>C GRCh37
NC_000016.8:g.163303T>C NCBI36
NG_000006.1:g.34167T>C
NG_059186.1:g.1654T>C
NG_059271.1:g.5458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.275T>C MANE Select ENSP00000251595.6:p.Leu92Pro
ENST00000251595.10:c.275T>C ENSP00000251595.6:p.Leu92Pro
ENST00000397806.1:c.179T>C ENSP00000380908.1:p.Leu60Pro
ENST00000482565.1:n.411T>C
ENST00000484216.1:n.244T>C
NM_000517.4:c.275T>C NP_000508.1:p.Leu92Pro
NM_000517.6:c.275T>C MANE Select NP_000508.1:p.Leu92Pro
Search 100 bp 5'
Search 100 bp 3'