Canonical Allele Identifier: CA276415569
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs63751282
MyVariant Identifiers: chr16:g.223595G>C (hg19) chr16:g.173596G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173596G>C , CM000678.2:g.173596G>C GRCh38
NC_000016.9:g.223595G>C , CM000678.1:g.223595G>C GRCh37
NC_000016.8:g.163595G>C NCBI36
NG_000006.1:g.34459G>C
NG_059186.1:g.1946G>C
NG_059271.1:g.5750G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.425G>C MANE Select ENSP00000251595.6:p.Arg142Pro
ENST00000251595.10:c.425G>C ENSP00000251595.6:p.Arg142Pro
ENST00000397806.1:c.329G>C ENSP00000380908.1:p.Arg110Pro
ENST00000482565.1:n.561G>C
NM_000517.4:c.425G>C NP_000508.1:p.Arg142Pro
NM_000517.6:c.425G>C MANE Select NP_000508.1:p.Arg142Pro
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