Canonical Allele Identifier: CA1139660942

Gene: TPM2

Linked Data

• ClinVar Variation Id: 986244
• ClinVar RCV Id: RCV001267549
• dbSNP Id: rs1824847791

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35685487_35685507del , CM000671.2:g.35685487_35685507del	GRCh38
NC_000009.11:g.35685484_35685504del , CM000671.1:g.35685484_35685504del	GRCh37
NC_000009.10:g.35675484_35675504del	NCBI36
NG_011620.1:g.9553_9573del , LRG_680:g.9553_9573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.421_441del	ENSP00000367542.3:p.Met141_Gln147del
ENST00000643485.1:n.256_276del
ENST00000645482.3:c.421_441del MANE Select	ENSP00000496494.2:p.Met141_Gln147del
ENST00000647435.1:c.421_441del	ENSP00000495440.1:p.Met141_Gln147del
ENST00000329305.6:c.421_441del	ENSP00000367541.1:p.Met141_Gln147del
ENST00000360958.6:c.421_441del	ENSP00000354219.2:p.Met141_Gln147del
ENST00000378292.7:c.421_441del	ENSP00000367542.3:p.Met141_Gln147del
ENST00000378300.9:c.421_441del	ENSP00000367550.5:p.Met141_Gln147del
ENST00000471212.5:n.504_524del
ENST00000486018.1:n.39_59del
ENST00000604975.1:n.307_327del
NM_001301226.1:c.421_441del	NP_001288155.1:p.Met141_Gln147del
NM_001301227.1:c.421_441del	NP_001288156.1:p.Met141_Gln147del
NM_003289.3:c.421_441del , LRG_680t2:c.421_441del	NP_003280.2:p.Met141_Gln147del
NM_213674.1:c.421_441del , LRG_680t1:c.421_441del	NP_998839.1:p.Met141_Gln147del
XR_929320.1:n.529_549del
XR_929321.1:n.529_549del
XR_929322.1:n.529_549del
XR_929323.1:n.529_549del
XR_929324.1:n.532_552del
XR_929325.1:n.529_549del
XM_017015087.2:c.421_441del	XP_016870576.1:p.Met141_Gln147del
XM_017015088.2:c.421_441del	XP_016870577.1:p.Met141_Gln147del
XM_017015090.2:c.421_441del	XP_016870579.1:p.Met141_Gln147del
XM_017015091.2:c.421_441del	XP_016870580.1:p.Met141_Gln147del
XM_017015092.2:c.421_441del	XP_016870581.1:p.Met141_Gln147del
XM_017015093.2:c.421_441del	XP_016870582.1:p.Met141_Gln147del
NM_001301226.2:c.421_441del	NP_001288155.1:p.Met141_Gln147del
NM_003289.4:c.421_441del MANE Select	NP_003280.2:p.Met141_Gln147del
NM_001301227.2:c.421_441del	NP_001288156.1:p.Met141_Gln147del