Canonical Allele Identifier: CA232662

Gene: TPM2

Linked Data

• ClinVar Variation Id: 140494
• ClinVar RCV Id: RCV000128689
• dbSNP Id: rs199476156
• MyVariant Identifiers: chr9:g.35684531_35684533del (hg19) ; chr9:g.35684534_35684536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35684538_35684540del , CM000671.2:g.35684538_35684540del	GRCh38
NC_000009.11:g.35684535_35684537del , CM000671.1:g.35684535_35684537del	GRCh37
NC_000009.10:g.35674535_35674537del	NCBI36
NG_011620.1:g.10522_10524del , LRG_680:g.10522_10524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.654_656del	ENSP00000367542.3:p.Glu218del
ENST00000643485.1:n.489_491del
ENST00000644325.1:c.86_88del
ENST00000645482.3:c.654_656del MANE Select	ENSP00000496494.2:p.Glu218del
ENST00000647435.1:c.654_656del	ENSP00000495440.1:p.Glu218del
ENST00000329305.6:c.654_656del	ENSP00000367541.1:p.Glu218del
ENST00000360958.6:c.654_656del	ENSP00000354219.2:p.Glu218del
ENST00000378292.7:c.654_656del	ENSP00000367542.3:p.Glu218del
ENST00000378300.9:c.654_656del	ENSP00000367550.5:p.Glu218del
ENST00000471212.5:n.1250_1252del
ENST00000607559.1:c.195_197del	ENSP00000475952.1:p.Glu65del
NM_001301226.1:c.654_656del	NP_001288155.1:p.Glu218del
NM_001301227.1:c.654_656del	NP_001288156.1:p.Glu218del
NM_003289.3:c.654_656del , LRG_680t2:c.654_656del	NP_003280.2:p.Glu218del
NM_213674.1:c.654_656del , LRG_680t1:c.654_656del	NP_998839.1:p.Glu218del
XR_929320.1:n.1094_1096del
XR_929321.1:n.1094_1096del
XR_929322.1:n.762_764del
XR_929323.1:n.762_764del
XR_929324.1:n.841_843del
XR_929325.1:n.838_840del
XM_017015087.2:c.*74_*76del	XP_016870576.1:n.*74_*76del
XM_017015088.2:c.*74_*76del	XP_016870577.1:n.*74_*76del
XM_017015090.2:c.654_656del	XP_016870579.1:p.Glu218del
XM_017015091.2:c.654_656del	XP_016870580.1:p.Glu218del
XM_017015092.2:c.*88_*90del	XP_016870581.1:n.*88_*90del
XM_017015093.2:c.*88_*90del	XP_016870582.1:n.*88_*90del
NM_001301226.2:c.654_656del	NP_001288155.1:p.Glu218del
NM_003289.4:c.654_656del MANE Select	NP_003280.2:p.Glu218del
NM_001301227.2:c.654_656del	NP_001288156.1:p.Glu218del