Canonical Allele Identifier: CA881804184

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1468625292
• gnomAD v3: 19-3595847-G-GAGC
• gnomAD v4: 19-3595847-G-GAGC
• MyVariant Identifiers: chr19:g.3595845_3595846insAGC (hg19) ; chr19:g.3595847_3595848insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595851_3595853dup , CM000681.2:g.3595851_3595853dup	GRCh38
NC_000019.9:g.3595849_3595851dup , CM000681.1:g.3595849_3595851dup	GRCh37
NC_000019.8:g.3546849_3546851dup	NCBI36
NG_013363.1:g.15984_15986dup , LRG_578:g.15984_15986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.870_872dup MANE Select	ENSP00000364336.4:p.Leu291_Ile292insLeu
ENST00000375190.8:c.870_872dup	ENSP00000364336.3:p.Leu291_Ile292insLeu
ENST00000411851.3:c.870_872dup	ENSP00000393333.2:p.Leu291_Ile292insLeu
ENST00000589966.1:c.481_483dup	ENSP00000468145.1:p.Ala161_His162insAla
NM_001060.5:c.870_872dup , LRG_578t1:c.870_872dup	NP_001051.1:p.Leu291_Ile292insLeu
NM_201636.2:c.870_872dup	NP_963998.2:p.Leu291_Ile292insLeu
XM_011528214.1:c.870_872dup	XP_011526516.1:p.Leu291_Ile292insLeu
XM_011528214.2:c.870_872dup	XP_011526516.1:p.Leu291_Ile292insLeu
NM_001060.6:c.870_872dup MANE Select	NP_001051.1:p.Leu291_Ile292insLeu
NM_201636.3:c.870_872dup	NP_963998.2:p.Leu291_Ile292insLeu