Canonical Allele Identifier: CA125637
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15676
ClinVar RCV Id: RCV000016962
dbSNP Id: rs281864826
ExAC: 16:223141 C / T
gnomAD v2: 16-223141-C-T
gnomAD v3: 16-173142-C-T
gnomAD v4: 16-173142-C-T
MyVariant Identifiers: chr16:g.223141C>T (hg19) chr16:g.173142C>T (hg38)
PubMed: PMID:12484634
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173142C>T , CM000678.2:g.173142C>T GRCh38
NC_000016.9:g.223141C>T , CM000678.1:g.223141C>T GRCh37
NC_000016.8:g.163141C>T NCBI36
NG_000006.1:g.34005C>T
NG_059186.1:g.1492C>T
NG_059271.1:g.5296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.113C>T MANE Select ENSP00000251595.6:p.Pro38Leu
ENST00000251595.10:c.113C>T ENSP00000251595.6:p.Pro38Leu
ENST00000397806.1:c.17C>T ENSP00000380908.1:p.Pro6Leu
ENST00000482565.1:n.249C>T
ENST00000484216.1:n.82C>T
NM_000517.4:c.113C>T NP_000508.1:p.Pro38Leu
NM_000517.6:c.113C>T MANE Select NP_000508.1:p.Pro38Leu
Search 100 bp 5'
Search 100 bp 3'