Canonical Allele Identifier: CA393993057
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.222963G>C (hg19) chr16:g.172964G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172964G>C , CM000678.2:g.172964G>C GRCh38
NC_000016.9:g.222963G>C , CM000678.1:g.222963G>C GRCh37
NC_000016.8:g.162963G>C NCBI36
NG_000006.1:g.33827G>C
NG_059186.1:g.1314G>C
NG_059271.1:g.5118G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.52G>C MANE Select ENSP00000251595.6:p.Val18Leu
ENST00000251595.10:c.52G>C ENSP00000251595.6:p.Val18Leu
ENST00000397806.1:c.-2+6G>C ENSP00000380908.1:n.-2+6G>C
ENST00000482565.1:n.71G>C
ENST00000484216.1:n.21G>C
NM_000517.4:c.52G>C NP_000508.1:p.Val18Leu
NM_000517.6:c.52G>C MANE Select NP_000508.1:p.Val18Leu
Search 100 bp 5'
Search 100 bp 3'