Canonical Allele Identifier: CA276415160
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439769
ClinVar RCV Id: RCV001556083
dbSNP Id: rs2362746
gnomAD v2: 16-223383-T-G
gnomAD v3: 16-173384-T-G
gnomAD v4: 16-173384-T-G
COSMIC: COSN1184346 COSN1184347 COSN5759080 COSN5759081
MyVariant Identifiers: chr16:g.223383T>G (hg19) chr16:g.173384T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173384T>G , CM000678.2:g.173384T>G GRCh38
NC_000016.9:g.223383T>G , CM000678.1:g.223383T>G GRCh37
NC_000016.8:g.163383T>G NCBI36
NG_000006.1:g.34247T>G
NG_059186.1:g.1734T>G
NG_059271.1:g.5538T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.300+55T>G MANE Select ENSP00000251595.6:n.300+55T>G
ENST00000251595.10:c.300+55T>G ENSP00000251595.6:n.300+55T>G
ENST00000397806.1:c.204+55T>G ENSP00000380908.1:n.204+55T>G
ENST00000482565.1:n.436+55T>G
ENST00000484216.1:n.324T>G
NM_000517.4:c.300+55T>G NP_000508.1:n.300+55T>G
NM_000517.6:c.300+55T>G MANE Select NP_000508.1:n.300+55T>G
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