Canonical Allele Identifier: CA276414398
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330147
ClinVar RCV Id: RCV001801164 RCV003120692
dbSNP Id: rs63750294
MyVariant Identifiers: chr16:g.222966G>C (hg19) chr16:g.172967G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172967G>C , CM000678.2:g.172967G>C GRCh38
NC_000016.9:g.222966G>C , CM000678.1:g.222966G>C GRCh37
NC_000016.8:g.162966G>C NCBI36
NG_000006.1:g.33830G>C
NG_059186.1:g.1317G>C
NG_059271.1:g.5121G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.55G>C MANE Select ENSP00000251595.6:p.Gly19Arg
ENST00000251595.10:c.55G>C ENSP00000251595.6:p.Gly19Arg
ENST00000397806.1:c.-2+9G>C ENSP00000380908.1:n.-2+9G>C
ENST00000482565.1:n.74G>C
ENST00000484216.1:n.24G>C
NM_000517.4:c.55G>C NP_000508.1:p.Gly19Arg
NM_000517.6:c.55G>C MANE Select NP_000508.1:p.Gly19Arg
Search 100 bp 5'
Search 100 bp 3'