Canonical Allele Identifier: CA492994677
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331068
ClinVar RCV Id: RCV001812604
dbSNP Id: rs2142018022
gnomAD v4: 16-173251-G-T
MyVariant Identifiers: chr16:g.223250G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173251G>T , CM000678.2:g.173251G>T GRCh38
NC_000016.9:g.223250G>T , CM000678.1:g.223250G>T GRCh37
NC_000016.8:g.163250G>T NCBI36
NG_000006.1:g.34114G>T
NG_059186.1:g.1601G>T
NG_059271.1:g.5405G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.222G>T MANE Select ENSP00000251595.6:p.Val74=
ENST00000251595.10:c.222G>T ENSP00000251595.6:p.Val74=
ENST00000397806.1:c.126G>T ENSP00000380908.1:p.Val42=
ENST00000482565.1:n.358G>T
ENST00000484216.1:n.191G>T
NM_000517.4:c.222G>T NP_000508.1:p.Val74=
NM_000517.6:c.222G>T MANE Select NP_000508.1:p.Val74=