Canonical Allele Identifier: CA276415450
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs33933481
MyVariant Identifiers: chr16:g.223549G>C (hg19) chr16:g.173550G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173550G>C , CM000678.2:g.173550G>C GRCh38
NC_000016.9:g.223549G>C , CM000678.1:g.223549G>C GRCh37
NC_000016.8:g.163549G>C NCBI36
NG_000006.1:g.34413G>C
NG_059186.1:g.1900G>C
NG_059271.1:g.5704G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.379G>C MANE Select ENSP00000251595.6:p.Asp127His
ENST00000251595.10:c.379G>C ENSP00000251595.6:p.Asp127His
ENST00000397806.1:c.283G>C ENSP00000380908.1:p.Asp95His
ENST00000482565.1:n.515G>C
NM_000517.4:c.379G>C NP_000508.1:p.Asp127His
NM_000517.6:c.379G>C MANE Select NP_000508.1:p.Asp127His
Search 100 bp 5'
Search 100 bp 3'