Canonical Allele Identifier: CA373368042
Community Standard Title: NM_003289.4(TPM2):c.349G>C (p.Glu117Gln)
Gene: TPM2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003289.4:c.349G>C MANE Select NP_003280.2:p.Glu117Gln
ENST00000645482.3:c.349G>C MANE Select ENSP00000496494.2:p.Glu117Gln
NM_001301226.1:c.349G>C NP_001288155.1:p.Glu117Gln
NM_001301226.2:c.349G>C NP_001288155.1:p.Glu117Gln
NM_001301227.1:c.349G>C NP_001288156.1:p.Glu117Gln
NM_001301227.2:c.349G>C NP_001288156.1:p.Glu117Gln
NM_003289.3:c.349G>C , LRG_680t2:c.349G>C NP_003280.2:p.Glu117Gln
NM_213674.1:c.349G>C , LRG_680t1:c.349G>C NP_998839.1:p.Glu117Gln
ENST00000329305.6:c.349G>C ENSP00000367541.1:p.Glu117Gln
ENST00000360958.6:c.349G>C ENSP00000354219.2:p.Glu117Gln
ENST00000378292.7:c.349G>C ENSP00000367542.3:p.Glu117Gln
ENST00000378292.9:c.349G>C ENSP00000367542.3:p.Glu117Gln
ENST00000378300.9:c.349G>C ENSP00000367550.5:p.Glu117Gln
ENST00000471212.5:n.432G>C
ENST00000604975.1:n.235G>C
ENST00000643485.1:n.184G>C
ENST00000647435.1:c.349G>C ENSP00000495440.1:p.Glu117Gln
XM_017015087.2:c.349G>C XP_016870576.1:p.Glu117Gln
XM_017015088.2:c.349G>C XP_016870577.1:p.Glu117Gln
XM_017015090.2:c.349G>C XP_016870579.1:p.Glu117Gln
XM_017015091.2:c.349G>C XP_016870580.1:p.Glu117Gln
XM_017015092.2:c.349G>C XP_016870581.1:p.Glu117Gln
XM_017015093.2:c.349G>C XP_016870582.1:p.Glu117Gln
XR_929320.1:n.457G>C
XR_929321.1:n.457G>C
XR_929322.1:n.457G>C
XR_929323.1:n.457G>C
XR_929324.1:n.460G>C
XR_929325.1:n.457G>C