Canonical Allele Identifier: CA147644

Gene: TPM2

Linked Data

• ClinVar Variation Id: 94125
• ClinVar RCV Id: RCV000080088 ; RCV000527724 ; RCV002498408
• dbSNP Id: rs35401252
• ExAC: 9:35683240 T / TGG
• gnomAD v2: 9-35683240-T-TGG
• gnomAD v3: 9-35683243-T-TGG
• gnomAD v4: 9-35683243-T-TGG
• MyVariant Identifiers: chr9:g.35683241_35683242dup (hg19) ; chr9:g.35683241_35683242dupGG (hg19) ; chr9:g.35683241_35683242insGG (hg19) ; chr9:g.35683240_35683241insGG (hg19) ; chr9:g.35683244_35683245dupGG (hg38) ; chr9:g.35683244_35683245insGG (hg38) ; chr9:g.35683243_35683244insGG (hg38)
• PubMed: PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35683250_35683251dup , CM000671.2:g.35683250_35683251dup	GRCh38
NC_000009.11:g.35683247_35683248dup , CM000671.1:g.35683247_35683248dup	GRCh37
NC_000009.10:g.35673247_35673248dup	NCBI36
NG_011620.1:g.11813_11814dup , LRG_680:g.11813_11814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.772+1001_772+1002dup	ENSP00000367542.3:n.772+1001_772+1002dup
ENST00000643485.1:n.608-4_608-3dup
ENST00000644325.1:c.205-341_205-340dup
ENST00000645482.3:c.773-4_773-3dup MANE Select	ENSP00000496494.2:n.773-4_773-3dup
ENST00000647435.1:c.773-4_773-3dup	ENSP00000495440.1:n.773-4_773-3dup
ENST00000329305.6:c.772+1001_772+1002dup	ENSP00000367541.1:n.772+1001_772+1002dup
ENST00000360958.6:c.773-4_773-3dup	ENSP00000354219.2:n.773-4_773-3dup
ENST00000378292.7:c.772+1001_772+1002dup	ENSP00000367542.3:n.772+1001_772+1002dup
ENST00000378300.9:c.773-341_773-340dup	ENSP00000367550.5:n.773-341_773-340dup
NM_001301226.1:c.772+1001_772+1002dup	NP_001288155.1:n.772+1001_772+1002dup
NM_001301227.1:c.773-4_773-3dup	NP_001288156.1:n.773-4_773-3dup
NM_003289.3:c.773-4_773-3dup , LRG_680t2:c.773-4_773-3dup	NP_003280.2:n.773-4_773-3dup
NM_213674.1:c.772+1001_772+1002dup , LRG_680t1:c.772+1001_772+1002dup	NP_998839.1:n.772+1001_772+1002dup
XR_929320.1:n.1212+1001_1212+1002dup
XR_929321.1:n.1213-4_1213-3dup
XR_929322.1:n.881-4_881-3dup
XR_929323.1:n.881-4_881-3dup
XR_929324.1:n.959+1001_959+1002dup
XR_929325.1:n.957-4_957-3dup
XM_017015087.2:c.*193-4_*193-3dup	XP_016870576.1:n.*193-4_*193-3dup
XM_017015088.2:c.*192+1001_*192+1002dup	XP_016870577.1:n.*192+1001_*192+1002dup
XM_017015090.2:c.773-4_773-3dup	XP_016870579.1:n.773-4_773-3dup
XM_017015091.2:c.773-4_773-3dup	XP_016870580.1:n.773-4_773-3dup
XM_017015092.2:c.*207-4_*207-3dup	XP_016870581.1:n.*207-4_*207-3dup
XM_017015093.2:c.*206+1001_*206+1002dup	XP_016870582.1:n.*206+1001_*206+1002dup
NM_001301226.2:c.772+1001_772+1002dup	NP_001288155.1:n.772+1001_772+1002dup
NM_003289.4:c.773-4_773-3dup MANE Select	NP_003280.2:n.773-4_773-3dup
NM_001301227.2:c.773-4_773-3dup	NP_001288156.1:n.773-4_773-3dup