Canonical Allele Identifier: CA122411

Gene: TPM2

Linked Data

• ClinVar Variation Id: 12465
• ClinVar RCV Id: RCV000128684 ; RCV000500415 ; RCV000532873 ; RCV004528107
• dbSNP Id: rs199476153
• MyVariant Identifiers: chr9:g.35685506_35685508del (hg19) ; chr9:g.35685509_35685511del (hg38)
• PubMed: PMID:17434307 ; PMID:19345583

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35685512_35685514del , CM000671.2:g.35685512_35685514del	GRCh38
NC_000009.11:g.35685509_35685511del , CM000671.1:g.35685509_35685511del	GRCh37
NC_000009.10:g.35675509_35675511del	NCBI36
NG_011620.1:g.9547_9549del , LRG_680:g.9547_9549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.415_417del	ENSP00000367542.3:p.Glu139del
ENST00000643485.1:n.250_252del
ENST00000645482.3:c.415_417del MANE Select	ENSP00000496494.2:p.Glu139del
ENST00000647435.1:c.415_417del	ENSP00000495440.1:p.Glu139del
ENST00000329305.6:c.415_417del	ENSP00000367541.1:p.Glu139del
ENST00000360958.6:c.415_417del	ENSP00000354219.2:p.Glu139del
ENST00000378292.7:c.415_417del	ENSP00000367542.3:p.Glu139del
ENST00000378300.9:c.415_417del	ENSP00000367550.5:p.Glu139del
ENST00000471212.5:n.498_500del
ENST00000486018.1:n.33_35del
ENST00000604975.1:n.301_303del
NM_001301226.1:c.415_417del	NP_001288155.1:p.Glu139del
NM_001301227.1:c.415_417del	NP_001288156.1:p.Glu139del
NM_003289.3:c.415_417del , LRG_680t2:c.415_417del	NP_003280.2:p.Glu139del
NM_213674.1:c.415_417del , LRG_680t1:c.415_417del	NP_998839.1:p.Glu139del
XR_929320.1:n.523_525del
XR_929321.1:n.523_525del
XR_929322.1:n.523_525del
XR_929323.1:n.523_525del
XR_929324.1:n.526_528del
XR_929325.1:n.523_525del
XM_017015087.2:c.415_417del	XP_016870576.1:p.Glu139del
XM_017015088.2:c.415_417del	XP_016870577.1:p.Glu139del
XM_017015090.2:c.415_417del	XP_016870579.1:p.Glu139del
XM_017015091.2:c.415_417del	XP_016870580.1:p.Glu139del
XM_017015092.2:c.415_417del	XP_016870581.1:p.Glu139del
XM_017015093.2:c.415_417del	XP_016870582.1:p.Glu139del
NM_001301226.2:c.415_417del	NP_001288155.1:p.Glu139del
NM_003289.4:c.415_417del MANE Select	NP_003280.2:p.Glu139del
NM_001301227.2:c.415_417del	NP_001288156.1:p.Glu139del