Canonical Allele Identifier: CA631504295
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1403381310
gnomAD v2: 19-3595559-AC-A
gnomAD v4: 19-3595561-AC-A
MyVariant Identifiers: chr19:g.3595560del (hg19) chr19:g.3595562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595564del , CM000681.2:g.3595564del GRCh38
NC_000019.9:g.3595562del , CM000681.1:g.3595562del GRCh37
NC_000019.8:g.3546562del NCBI36
NG_013363.1:g.16272del , LRG_578:g.16272del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*126del MANE Select ENSP00000364336.4:n.*126del
ENST00000375190.8:c.*126del ENSP00000364336.3:n.*126del
ENST00000411851.3:c.983+175del ENSP00000393333.2:n.983+175del
ENST00000589966.1:c.769del ENSP00000468145.1:p.Val257PhefsTer16
NM_001060.5:c.*126del , LRG_578t1:c.*126del NP_001051.1:n.*126del
NM_201636.2:c.983+175del NP_963998.2:n.983+175del
NM_001060.6:c.*126del MANE Select NP_001051.1:n.*126del
NM_201636.3:c.983+175del NP_963998.2:n.983+175del
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