Canonical Allele Identifier: CA373365352
Gene: TPM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 939822
ClinVar RCV Id: RCV001209276
dbSNP Id: rs137853307

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35684765G>T , CM000671.2:g.35684765G>T GRCh38
NC_000009.11:g.35684762G>T , CM000671.1:g.35684762G>T GRCh37
NC_000009.10:g.35674762G>T NCBI36
NG_011620.1:g.10293C>A , LRG_680:g.10293C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378292.9:c.640-215C>A ENSP00000367542.3:n.640-215C>A
ENST00000643485.1:n.441C>A
ENST00000644325.1:c.38C>A
ENST00000645482.3:c.606C>A MANE Select ENSP00000496494.2:p.Asn202Lys
ENST00000647435.1:c.640-215C>A ENSP00000495440.1:n.640-215C>A
ENST00000329305.6:c.606C>A ENSP00000367541.1:p.Asn202Lys
ENST00000360958.6:c.606C>A ENSP00000354219.2:p.Asn202Lys
ENST00000378292.7:c.640-215C>A ENSP00000367542.3:n.640-215C>A
ENST00000378300.9:c.606C>A ENSP00000367550.5:p.Asn202Lys
ENST00000471212.5:n.1021C>A
ENST00000486018.1:n.685C>A
ENST00000607559.1:c.147C>A ENSP00000475952.1:p.Asn49Lys
NM_001301226.1:c.606C>A NP_001288155.1:p.Asn202Lys
NM_001301227.1:c.640-215C>A NP_001288156.1:n.640-215C>A
NM_003289.3:c.606C>A , LRG_680t2:c.606C>A NP_003280.2:p.Asn202Lys
NM_213674.1:c.640-215C>A , LRG_680t1:c.640-215C>A NP_998839.1:n.640-215C>A
XR_929320.1:n.1046C>A
XR_929321.1:n.1046C>A
XR_929322.1:n.748-215C>A
XR_929323.1:n.714C>A
XR_929324.1:n.793C>A
XR_929325.1:n.790C>A
XM_017015087.2:c.*26C>A XP_016870576.1:n.*26C>A
XM_017015088.2:c.*26C>A XP_016870577.1:n.*26C>A
XM_017015090.2:c.640-215C>A XP_016870579.1:n.640-215C>A
XM_017015091.2:c.606C>A XP_016870580.1:p.Asn202Lys
XM_017015092.2:c.*40C>A XP_016870581.1:n.*40C>A
XM_017015093.2:c.*40C>A XP_016870582.1:n.*40C>A
NM_001301226.2:c.606C>A NP_001288155.1:p.Asn202Lys
NM_003289.4:c.606C>A MANE Select NP_003280.2:p.Asn202Lys
NM_001301227.2:c.640-215C>A NP_001288156.1:n.640-215C>A