Canonical Allele Identifier: CA2318945794
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs2032586009
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595699del , CM000681.2:g.3595699del GRCh38
NC_000019.9:g.3595697del , CM000681.1:g.3595697del GRCh37
NC_000019.8:g.3546697del NCBI36
NG_013363.1:g.16137del , LRG_578:g.16137del

Transcript Alleles

HGVS Amino-acid change
ENST00000375190.10:c.1023del MANE Select ENSP00000364336.4:p.Leu342CysfsTer28
ENST00000375190.8:c.1023del ENSP00000364336.3:p.Leu342CysfsTer28
ENST00000411851.3:c.983+40del ENSP00000393333.2:n.983+40del
ENST00000589966.1:c.634del ENSP00000468145.1:p.Ala212LeufsTer3
NM_001060.5:c.1023del , LRG_578t1:c.1023del NP_001051.1:p.Leu342CysfsTer28
NM_201636.2:c.983+40del NP_963998.2:n.983+40del
XM_011528214.1:c.1023del XP_011526516.1:p.Leu342CysfsTer28
XM_011528214.2:c.1023del XP_011526516.1:p.Leu342CysfsTer28
NM_001060.6:c.1023del MANE Select NP_001051.1:p.Leu342CysfsTer28
NM_201636.3:c.983+40del NP_963998.2:n.983+40del
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