Canonical Allele Identifier: CA7770200
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330003
ClinVar RCV Id: RCV001801020
dbSNP Id: rs3020599
ExAC: 16:223631 G / T
gnomAD v2: 16-223631-G-T
gnomAD v3: 16-173632-G-T
gnomAD v4: 16-173632-G-T
MyVariant Identifiers: chr16:g.223631G>T (hg19) chr16:g.173632G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173632G>T , CM000678.2:g.173632G>T GRCh38
NC_000016.9:g.223631G>T , CM000678.1:g.223631G>T GRCh37
NC_000016.8:g.163631G>T NCBI36
NG_000006.1:g.34495G>T
NG_059186.1:g.1982G>T
NG_059271.1:g.5786G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*32G>T MANE Select ENSP00000251595.6:n.*32G>T
ENST00000251595.10:c.*32G>T ENSP00000251595.6:n.*32G>T
ENST00000397806.1:c.*32G>T ENSP00000380908.1:n.*32G>T
ENST00000482565.1:n.597G>T
NM_000517.4:c.*32G>T NP_000508.1:n.*32G>T
NM_000517.6:c.*32G>T MANE Select NP_000508.1:n.*32G>T
Search 100 bp 5'
Search 100 bp 3'