Canonical Allele Identifier: CA403329207

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595619-A-C
• MyVariant Identifiers: chr19:g.3595617A>C (hg19) ; chr19:g.3595619A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595619A>C , CM000681.2:g.3595619A>C	GRCh38
NC_000019.9:g.3595617A>C , CM000681.1:g.3595617A>C	GRCh37
NC_000019.8:g.3546617A>C	NCBI36
NG_013363.1:g.16215T>G , LRG_578:g.16215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*69T>G MANE Select	ENSP00000364336.4:n.*69T>G
ENST00000375190.8:c.*69T>G	ENSP00000364336.3:n.*69T>G
ENST00000411851.3:c.983+118T>G	ENSP00000393333.2:n.983+118T>G
ENST00000589966.1:c.712T>G	ENSP00000468145.1:p.Cys238Gly
NM_001060.5:c.*69T>G , LRG_578t1:c.*69T>G	NP_001051.1:n.*69T>G
NM_201636.2:c.983+118T>G	NP_963998.2:n.983+118T>G
XM_011528214.1:c.*69T>G	XP_011526516.1:n.*69T>G
XM_011528214.2:c.*69T>G	XP_011526516.1:n.*69T>G
NM_001060.6:c.*69T>G MANE Select	NP_001051.1:n.*69T>G
NM_201636.3:c.983+118T>G	NP_963998.2:n.983+118T>G