Canonical Allele Identifier: CA916082331

Gene: TPM2

Linked Data

• ClinVar Variation Id: 861756
• ClinVar RCV Id: RCV001068342
• dbSNP Id: rs1824851546

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35685538_35685540dup , CM000671.2:g.35685538_35685540dup	GRCh38
NC_000009.11:g.35685535_35685537dup , CM000671.1:g.35685535_35685537dup	GRCh37
NC_000009.10:g.35675535_35675537dup	NCBI36
NG_011620.1:g.9520_9522dup , LRG_680:g.9520_9522dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378292.9:c.388_390dup	ENSP00000367542.3:p.Ile130_Glu131insIle
ENST00000643485.1:n.223_225dup
ENST00000645482.3:c.388_390dup MANE Select	ENSP00000496494.2:p.Ile130_Glu131insIle
ENST00000647435.1:c.388_390dup	ENSP00000495440.1:p.Ile130_Glu131insIle
ENST00000329305.6:c.388_390dup	ENSP00000367541.1:p.Ile130_Glu131insIle
ENST00000360958.6:c.388_390dup	ENSP00000354219.2:p.Ile130_Glu131insIle
ENST00000378292.7:c.388_390dup	ENSP00000367542.3:p.Ile130_Glu131insIle
ENST00000378300.9:c.388_390dup	ENSP00000367550.5:p.Ile130_Glu131insIle
ENST00000471212.5:n.471_473dup
ENST00000486018.1:n.6_8dup
ENST00000604975.1:n.274_276dup
NM_001301226.1:c.388_390dup	NP_001288155.1:p.Ile130_Glu131insIle
NM_001301227.1:c.388_390dup	NP_001288156.1:p.Ile130_Glu131insIle
NM_003289.3:c.388_390dup , LRG_680t2:c.388_390dup	NP_003280.2:p.Ile130_Glu131insIle
NM_213674.1:c.388_390dup , LRG_680t1:c.388_390dup	NP_998839.1:p.Ile130_Glu131insIle
XR_929320.1:n.496_498dup
XR_929321.1:n.496_498dup
XR_929322.1:n.496_498dup
XR_929323.1:n.496_498dup
XR_929324.1:n.499_501dup
XR_929325.1:n.496_498dup
XM_017015087.2:c.388_390dup	XP_016870576.1:p.Ile130_Glu131insIle
XM_017015088.2:c.388_390dup	XP_016870577.1:p.Ile130_Glu131insIle
XM_017015090.2:c.388_390dup	XP_016870579.1:p.Ile130_Glu131insIle
XM_017015091.2:c.388_390dup	XP_016870580.1:p.Ile130_Glu131insIle
XM_017015092.2:c.388_390dup	XP_016870581.1:p.Ile130_Glu131insIle
XM_017015093.2:c.388_390dup	XP_016870582.1:p.Ile130_Glu131insIle
NM_001301226.2:c.388_390dup	NP_001288155.1:p.Ile130_Glu131insIle
NM_003289.4:c.388_390dup MANE Select	NP_003280.2:p.Ile130_Glu131insIle
NM_001301227.2:c.388_390dup	NP_001288156.1:p.Ile130_Glu131insIle