Canonical Allele Identifier: CA5047475

Gene: TPM2

Linked Data

• ClinVar Variation Id: 366771
• ClinVar RCV Id: RCV000336042 ; RCV000503446 ; RCV000394289 ; RCV004544715
• dbSNP Id: rs372751531
• ExAC: 9:35689824 G / T
• gnomAD v2: 9-35689824-G-T
• gnomAD v3: 9-35689827-G-T
• gnomAD v4: 9-35689827-G-T
• MyVariant Identifiers: chr9:g.35689824G>T (hg19) ; chr9:g.35689827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35689827G>T , CM000671.2:g.35689827G>T	GRCh38
NC_000009.11:g.35689824G>T , CM000671.1:g.35689824G>T	GRCh37
NC_000009.10:g.35679824G>T	NCBI36
NG_011620.1:g.5231C>A , LRG_680:g.5231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.-10C>A	ENSP00000367542.3:n.-10C>A
ENST00000645482.3:c.-10C>A MANE Select	ENSP00000496494.2:n.-10C>A
ENST00000647435.1:c.-10C>A	ENSP00000495440.1:n.-10C>A
ENST00000329305.6:c.-10C>A	ENSP00000367541.1:n.-10C>A
ENST00000360958.6:c.-10C>A	ENSP00000354219.2:n.-10C>A
ENST00000378292.7:c.-10C>A	ENSP00000367542.3:n.-10C>A
ENST00000378300.9:c.-10C>A	ENSP00000367550.5:n.-10C>A
ENST00000471212.5:n.74C>A
ENST00000604975.1:n.99C>A
NM_001301226.1:c.-10C>A	NP_001288155.1:n.-10C>A
NM_001301227.1:c.-10C>A	NP_001288156.1:n.-10C>A
NM_003289.3:c.-10C>A , LRG_680t2:c.-10C>A	NP_003280.2:n.-10C>A
NM_213674.1:c.-10C>A , LRG_680t1:c.-10C>A	NP_998839.1:n.-10C>A
XR_929320.1:n.99C>A
XR_929321.1:n.99C>A
XR_929322.1:n.99C>A
XR_929323.1:n.99C>A
XR_929324.1:n.102C>A
XR_929325.1:n.99C>A
XM_017015087.2:c.-10C>A	XP_016870576.1:n.-10C>A
XM_017015088.2:c.-10C>A	XP_016870577.1:n.-10C>A
XM_017015090.2:c.-10C>A	XP_016870579.1:n.-10C>A
XM_017015091.2:c.-10C>A	XP_016870580.1:n.-10C>A
XM_017015092.2:c.-10C>A	XP_016870581.1:n.-10C>A
XM_017015093.2:c.-10C>A	XP_016870582.1:n.-10C>A
NM_001301226.2:c.-10C>A	NP_001288155.1:n.-10C>A
NM_003289.4:c.-10C>A MANE Select	NP_003280.2:n.-10C>A
NM_001301227.2:c.-10C>A	NP_001288156.1:n.-10C>A