Canonical Allele Identifier: CA920042084
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1599868701
gnomAD v3: 19-3595474-GA-G
gnomAD v4: 19-3595474-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595479del , CM000681.2:g.3595479del GRCh38
NC_000019.9:g.3595477del , CM000681.1:g.3595477del GRCh37
NC_000019.8:g.3546477del NCBI36
NG_013363.1:g.16359del , LRG_578:g.16359del
NG_031943.1:g.14909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*213del MANE Select ENSP00000364336.4:n.*213del
ENST00000375190.8:c.*213del ENSP00000364336.3:n.*213del
ENST00000411851.3:c.983+262del ENSP00000393333.2:n.983+262del
ENST00000589966.1:c.*76del ENSP00000468145.1:n.*76del
NM_001060.5:c.*213del , LRG_578t1:c.*213del NP_001051.1:n.*213del
NM_201636.2:c.983+262del NP_963998.2:n.983+262del
NM_001060.6:c.*213del MANE Select NP_001051.1:n.*213del
NM_201636.3:c.983+262del NP_963998.2:n.983+262del
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