Canonical Allele Identifier: CA16618858
Gene: TPM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423115
ClinVar RCV Id: RCV000484979
dbSNP Id: rs1064796239

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35689142_35689143del , CM000671.2:g.35689142_35689143del GRCh38
NC_000009.11:g.35689139_35689140del , CM000671.1:g.35689139_35689140del GRCh37
NC_000009.10:g.35679139_35679140del NCBI36
NG_011620.1:g.5916_5917del , LRG_680:g.5916_5917del

Transcript Alleles

HGVS Amino-acid change
ENST00000378292.9:c.240+4_240+5del ENSP00000367542.3:n.240+4_240+5del
ENST00000645482.3:c.240+4_240+5del MANE Select ENSP00000496494.2:n.240+4_240+5del
ENST00000647435.1:c.240+4_240+5del ENSP00000495440.1:n.240+4_240+5del
ENST00000329305.6:c.240+4_240+5del ENSP00000367541.1:n.240+4_240+5del
ENST00000360958.6:c.240+4_240+5del ENSP00000354219.2:n.240+4_240+5del
ENST00000378292.7:c.240+4_240+5del ENSP00000367542.3:n.240+4_240+5del
ENST00000378300.9:c.240+4_240+5del ENSP00000367550.5:n.240+4_240+5del
ENST00000471212.5:n.323+4_323+5del
ENST00000604975.1:n.222+562_222+563del
NM_001301226.1:c.240+4_240+5del NP_001288155.1:n.240+4_240+5del
NM_001301227.1:c.240+4_240+5del NP_001288156.1:n.240+4_240+5del
NM_003289.3:c.240+4_240+5del , LRG_680t2:c.240+4_240+5del NP_003280.2:n.240+4_240+5del
NM_213674.1:c.240+4_240+5del , LRG_680t1:c.240+4_240+5del NP_998839.1:n.240+4_240+5del
XR_929320.1:n.348+4_348+5del
XR_929321.1:n.348+4_348+5del
XR_929322.1:n.348+4_348+5del
XR_929323.1:n.348+4_348+5del
XR_929324.1:n.351+4_351+5del
XR_929325.1:n.348+4_348+5del
XM_017015087.2:c.240+4_240+5del XP_016870576.1:n.240+4_240+5del
XM_017015088.2:c.240+4_240+5del XP_016870577.1:n.240+4_240+5del
XM_017015090.2:c.240+4_240+5del XP_016870579.1:n.240+4_240+5del
XM_017015091.2:c.240+4_240+5del XP_016870580.1:n.240+4_240+5del
XM_017015092.2:c.240+4_240+5del XP_016870581.1:n.240+4_240+5del
XM_017015093.2:c.240+4_240+5del XP_016870582.1:n.240+4_240+5del
NM_001301226.2:c.240+4_240+5del NP_001288155.1:n.240+4_240+5del
NM_003289.4:c.240+4_240+5del MANE Select NP_003280.2:n.240+4_240+5del
NM_001301227.2:c.240+4_240+5del NP_001288156.1:n.240+4_240+5del