Canonical Allele Identifier: CA2584493823

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595880-C-CTCACGGCACCATGAGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595880_3595881insTCACGGCACCATGAGCTG , CM000681.2:g.3595880_3595881insTCACGGCACCATGAGCTG	GRCh38
NC_000019.9:g.3595878_3595879insTCACGGCACCATGAGCTG , CM000681.1:g.3595878_3595879insTCACGGCACCATGAGCTG	GRCh37
NC_000019.8:g.3546878_3546879insTCACGGCACCATGAGCTG	NCBI36
NG_013363.1:g.15953_15954insCAGCTCATGGTGCCGTGA , LRG_578:g.15953_15954insCAGCTCATGGTGCCGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.839_840insCAGCTCATGGTGCCGTGA MANE Select	ENSP00000364336.4:p.Gly280_Gln281insSerSerTrpCysArgGlu
ENST00000375190.8:c.839_840insCAGCTCATGGTGCCGTGA	ENSP00000364336.3:p.Gly280_Gln281insSerSerTrpCysArgGlu
ENST00000411851.3:c.839_840insCAGCTCATGGTGCCGTGA	ENSP00000393333.2:p.Gly280_Gln281insSerSerTrpCysArgGlu
ENST00000589966.1:c.450_451insCAGCTCATGGTGCCGTGA
NM_001060.5:c.839_840insCAGCTCATGGTGCCGTGA , LRG_578t1:c.839_840insCAGCTCATGGTGCCGTGA	NP_001051.1:p.Gly280_Gln281insSerSerTrpCysArgGlu
NM_201636.2:c.839_840insCAGCTCATGGTGCCGTGA	NP_963998.2:p.Gly280_Gln281insSerSerTrpCysArgGlu
XM_011528214.1:c.839_840insCAGCTCATGGTGCCGTGA	XP_011526516.1:p.Gly280_Gln281insSerSerTrpCysArgGlu
XM_011528214.2:c.839_840insCAGCTCATGGTGCCGTGA	XP_011526516.1:p.Gly280_Gln281insSerSerTrpCysArgGlu
NM_001060.6:c.839_840insCAGCTCATGGTGCCGTGA MANE Select	NP_001051.1:p.Gly280_Gln281insSerSerTrpCysArgGlu
NM_201636.3:c.839_840insCAGCTCATGGTGCCGTGA	NP_963998.2:p.Gly280_Gln281insSerSerTrpCysArgGlu