Canonical Allele Identifier: CA992743747

Gene: TBXA2R

Linked Data

• dbSNP Id: rs2032592235
• gnomAD v3: 19-3595855-CCTT-C
• gnomAD v4: 19-3595855-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595858_3595860del , CM000681.2:g.3595858_3595860del	GRCh38
NC_000019.9:g.3595856_3595858del , CM000681.1:g.3595856_3595858del	GRCh37
NC_000019.8:g.3546856_3546858del	NCBI36
NG_013363.1:g.15976_15978del , LRG_578:g.15976_15978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.862_864del MANE Select	ENSP00000364336.4:p.Lys288del
ENST00000375190.8:c.862_864del	ENSP00000364336.3:p.Lys288del
ENST00000411851.3:c.862_864del	ENSP00000393333.2:p.Lys288del
ENST00000589966.1:c.473_475del	ENSP00000468145.1:p.Glu158del
NM_001060.5:c.862_864del , LRG_578t1:c.862_864del	NP_001051.1:p.Lys288del
NM_201636.2:c.862_864del	NP_963998.2:p.Lys288del
XM_011528214.1:c.862_864del	XP_011526516.1:p.Lys288del
XM_011528214.2:c.862_864del	XP_011526516.1:p.Lys288del
NM_001060.6:c.862_864del MANE Select	NP_001051.1:p.Lys288del
NM_201636.3:c.862_864del	NP_963998.2:p.Lys288del