Canonical Allele Identifier: CA373368501
Community Standard Title: NM_003289.4(TPM2):c.269G>A (p.Arg90His)
Gene: TPM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35685752C>T , CM000671.2:g.35685752C>T GRCh38
NC_000009.11:g.35685749C>T , CM000671.1:g.35685749C>T GRCh37
NC_000009.10:g.35675749C>T NCBI36
NG_011620.1:g.9306G>A , LRG_680:g.9306G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003289.4:c.269G>A MANE Select NP_003280.2:p.Arg90His
ENST00000645482.3:c.269G>A MANE Select ENSP00000496494.2:p.Arg90His
NM_001301226.1:c.269G>A NP_001288155.1:p.Arg90His
NM_001301226.2:c.269G>A NP_001288155.1:p.Arg90His
NM_001301227.1:c.269G>A NP_001288156.1:p.Arg90His
NM_001301227.2:c.269G>A NP_001288156.1:p.Arg90His
NM_003289.3:c.269G>A , LRG_680t2:c.269G>A NP_003280.2:p.Arg90His
NM_213674.1:c.269G>A , LRG_680t1:c.269G>A NP_998839.1:p.Arg90His
ENST00000329305.6:c.269G>A ENSP00000367541.1:p.Arg90His
ENST00000360958.6:c.269G>A ENSP00000354219.2:p.Arg90His
ENST00000378292.7:c.269G>A ENSP00000367542.3:p.Arg90His
ENST00000378292.9:c.269G>A ENSP00000367542.3:p.Arg90His
ENST00000378300.9:c.269G>A ENSP00000367550.5:p.Arg90His
ENST00000471212.5:n.352G>A
ENST00000604975.1:n.223-68G>A
ENST00000643485.1:n.104G>A
ENST00000647435.1:c.269G>A ENSP00000495440.1:p.Arg90His
XM_017015087.2:c.269G>A XP_016870576.1:p.Arg90His
XM_017015088.2:c.269G>A XP_016870577.1:p.Arg90His
XM_017015090.2:c.269G>A XP_016870579.1:p.Arg90His
XM_017015091.2:c.269G>A XP_016870580.1:p.Arg90His
XM_017015092.2:c.269G>A XP_016870581.1:p.Arg90His
XM_017015093.2:c.269G>A XP_016870582.1:p.Arg90His
XR_929320.1:n.377G>A
XR_929321.1:n.377G>A
XR_929322.1:n.377G>A
XR_929323.1:n.377G>A
XR_929324.1:n.380G>A
XR_929325.1:n.377G>A