Canonical Allele Identifier: CA122407
Gene: TPM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12463
dbSNP Id: rs137853305
gnomAD v4: 9-35685529-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35685529G>A , CM000671.2:g.35685529G>A GRCh38
NC_000009.11:g.35685526G>A , CM000671.1:g.35685526G>A GRCh37
NC_000009.10:g.35675526G>A NCBI36
NG_011620.1:g.9529C>T , LRG_680:g.9529C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378292.9:c.397C>T ENSP00000367542.3:p.Arg133Trp
ENST00000643485.1:n.232C>T
ENST00000645482.3:c.397C>T MANE Select ENSP00000496494.2:p.Arg133Trp
ENST00000647435.1:c.397C>T ENSP00000495440.1:p.Arg133Trp
ENST00000329305.6:c.397C>T ENSP00000367541.1:p.Arg133Trp
ENST00000360958.6:c.397C>T ENSP00000354219.2:p.Arg133Trp
ENST00000378292.7:c.397C>T ENSP00000367542.3:p.Arg133Trp
ENST00000378300.9:c.397C>T ENSP00000367550.5:p.Arg133Trp
ENST00000471212.5:n.480C>T
ENST00000486018.1:n.15C>T
ENST00000604975.1:n.283C>T
NM_001301226.1:c.397C>T NP_001288155.1:p.Arg133Trp
NM_001301227.1:c.397C>T NP_001288156.1:p.Arg133Trp
NM_003289.3:c.397C>T , LRG_680t2:c.397C>T NP_003280.2:p.Arg133Trp
NM_213674.1:c.397C>T , LRG_680t1:c.397C>T NP_998839.1:p.Arg133Trp
XR_929320.1:n.505C>T
XR_929321.1:n.505C>T
XR_929322.1:n.505C>T
XR_929323.1:n.505C>T
XR_929324.1:n.508C>T
XR_929325.1:n.505C>T
XM_017015087.2:c.397C>T XP_016870576.1:p.Arg133Trp
XM_017015088.2:c.397C>T XP_016870577.1:p.Arg133Trp
XM_017015090.2:c.397C>T XP_016870579.1:p.Arg133Trp
XM_017015091.2:c.397C>T XP_016870580.1:p.Arg133Trp
XM_017015092.2:c.397C>T XP_016870581.1:p.Arg133Trp
XM_017015093.2:c.397C>T XP_016870582.1:p.Arg133Trp
NM_001301226.2:c.397C>T NP_001288155.1:p.Arg133Trp
NM_003289.4:c.397C>T MANE Select NP_003280.2:p.Arg133Trp
NM_001301227.2:c.397C>T NP_001288156.1:p.Arg133Trp