Canonical Allele Identifier: CA232643

Gene: TPM2

Linked Data

• ClinVar Variation Id: 12462
• ClinVar RCV Id: RCV000013278 ; RCV000128681 ; RCV000531827
• dbSNP Id: rs104894129
• gnomAD v3: 9-35685672-C-T
• gnomAD v4: 9-35685672-C-T
• MyVariant Identifiers: chr9:g.35685669C>T (hg19) ; chr9:g.35685672C>T (hg38)
• PubMed: PMID:11738357 ; PMID:18789687 ; PMID:20301436

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35685672C>T , CM000671.2:g.35685672C>T	GRCh38
NC_000009.11:g.35685669C>T , CM000671.1:g.35685669C>T	GRCh37
NC_000009.10:g.35675669C>T	NCBI36
NG_011620.1:g.9386G>A , LRG_680:g.9386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.349G>A	ENSP00000367542.3:p.Glu117Lys
ENST00000643485.1:n.184G>A
ENST00000645482.3:c.349G>A MANE Select	ENSP00000496494.2:p.Glu117Lys
ENST00000647435.1:c.349G>A	ENSP00000495440.1:p.Glu117Lys
ENST00000329305.6:c.349G>A	ENSP00000367541.1:p.Glu117Lys
ENST00000360958.6:c.349G>A	ENSP00000354219.2:p.Glu117Lys
ENST00000378292.7:c.349G>A	ENSP00000367542.3:p.Glu117Lys
ENST00000378300.9:c.349G>A	ENSP00000367550.5:p.Glu117Lys
ENST00000471212.5:n.432G>A
ENST00000604975.1:n.235G>A
NM_001301226.1:c.349G>A	NP_001288155.1:p.Glu117Lys
NM_001301227.1:c.349G>A	NP_001288156.1:p.Glu117Lys
NM_003289.3:c.349G>A , LRG_680t2:c.349G>A	NP_003280.2:p.Glu117Lys
NM_213674.1:c.349G>A , LRG_680t1:c.349G>A	NP_998839.1:p.Glu117Lys
XR_929320.1:n.457G>A
XR_929321.1:n.457G>A
XR_929322.1:n.457G>A
XR_929323.1:n.457G>A
XR_929324.1:n.460G>A
XR_929325.1:n.457G>A
XM_017015087.2:c.349G>A	XP_016870576.1:p.Glu117Lys
XM_017015088.2:c.349G>A	XP_016870577.1:p.Glu117Lys
XM_017015090.2:c.349G>A	XP_016870579.1:p.Glu117Lys
XM_017015091.2:c.349G>A	XP_016870580.1:p.Glu117Lys
XM_017015092.2:c.349G>A	XP_016870581.1:p.Glu117Lys
XM_017015093.2:c.349G>A	XP_016870582.1:p.Glu117Lys
NM_001301226.2:c.349G>A	NP_001288155.1:p.Glu117Lys
NM_003289.4:c.349G>A MANE Select	NP_003280.2:p.Glu117Lys
NM_001301227.2:c.349G>A	NP_001288156.1:p.Glu117Lys