Canonical Allele Identifier: CA9080744

Gene: TBXA2R

Linked Data

• dbSNP Id: rs746012285
• ExAC: 19:3595830 C / T
• gnomAD v2: 19-3595830-C-T
• gnomAD v4: 19-3595832-C-T
• MyVariant Identifiers: chr19:g.3595830C>T (hg19) ; chr19:g.3595832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595832C>T , CM000681.2:g.3595832C>T	GRCh38
NC_000019.9:g.3595830C>T , CM000681.1:g.3595830C>T	GRCh37
NC_000019.8:g.3546830C>T	NCBI36
NG_013363.1:g.16002G>A , LRG_578:g.16002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.888G>A MANE Select	ENSP00000364336.4:p.Val296=
ENST00000375190.8:c.888G>A	ENSP00000364336.3:p.Val296=
ENST00000411851.3:c.888G>A	ENSP00000393333.2:p.Val296=
ENST00000589966.1:c.499G>A	ENSP00000468145.1:p.Gly167Ser
NM_001060.5:c.888G>A , LRG_578t1:c.888G>A	NP_001051.1:p.Val296=
NM_201636.2:c.888G>A	NP_963998.2:p.Val296=
XM_011528214.1:c.888G>A	XP_011526516.1:p.Val296=
XM_011528214.2:c.888G>A	XP_011526516.1:p.Val296=
NM_001060.6:c.888G>A MANE Select	NP_001051.1:p.Val296=
NM_201636.3:c.888G>A	NP_963998.2:p.Val296=