Canonical Allele Identifier: CA276415168
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439770
ClinVar RCV Id: RCV000759051
dbSNP Id: rs111264741
gnomAD v2: 16-223392-A-G
gnomAD v3: 16-173393-A-G
gnomAD v4: 16-173393-A-G
MyVariant Identifiers: chr16:g.223392A>G (hg19) chr16:g.173393A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173393A>G , CM000678.2:g.173393A>G GRCh38
NC_000016.9:g.223392A>G , CM000678.1:g.223392A>G GRCh37
NC_000016.8:g.163392A>G NCBI36
NG_000006.1:g.34256A>G
NG_059186.1:g.1743A>G
NG_059271.1:g.5547A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.300+64A>G MANE Select ENSP00000251595.6:n.300+64A>G
ENST00000251595.10:c.300+64A>G ENSP00000251595.6:n.300+64A>G
ENST00000397806.1:c.204+64A>G ENSP00000380908.1:n.204+64A>G
ENST00000482565.1:n.436+64A>G
ENST00000484216.1:n.333A>G
NM_000517.4:c.300+64A>G NP_000508.1:n.300+64A>G
NM_000517.6:c.300+64A>G MANE Select NP_000508.1:n.300+64A>G
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