Canonical Allele Identifier: CA5047388

Gene: TPM2

Linked Data

• ClinVar Variation Id: 458723
• ClinVar RCV Id: RCV000556694 ; RCV001168543 ; RCV004541649
• dbSNP Id: rs200730708
• ExAC: 9:35685635 C / G
• gnomAD v2: 9-35685635-C-G
• gnomAD v3: 9-35685638-C-G
• gnomAD v4: 9-35685638-C-G
• MyVariant Identifiers: chr9:g.35685635C>G (hg19) ; chr9:g.35685638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35685638C>G , CM000671.2:g.35685638C>G	GRCh38
NC_000009.11:g.35685635C>G , CM000671.1:g.35685635C>G	GRCh37
NC_000009.10:g.35675635C>G	NCBI36
NG_011620.1:g.9420G>C , LRG_680:g.9420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.374+9G>C	ENSP00000367542.3:n.374+9G>C
ENST00000643485.1:n.209+9G>C
ENST00000645482.3:c.374+9G>C MANE Select	ENSP00000496494.2:n.374+9G>C
ENST00000647435.1:c.374+9G>C	ENSP00000495440.1:n.374+9G>C
ENST00000329305.6:c.374+9G>C	ENSP00000367541.1:n.374+9G>C
ENST00000360958.6:c.374+9G>C	ENSP00000354219.2:n.374+9G>C
ENST00000378292.7:c.374+9G>C	ENSP00000367542.3:n.374+9G>C
ENST00000378300.9:c.374+9G>C	ENSP00000367550.5:n.374+9G>C
ENST00000471212.5:n.457+9G>C
ENST00000604975.1:n.260+9G>C
NM_001301226.1:c.374+9G>C	NP_001288155.1:n.374+9G>C
NM_001301227.1:c.374+9G>C	NP_001288156.1:n.374+9G>C
NM_003289.3:c.374+9G>C , LRG_680t2:c.374+9G>C	NP_003280.2:n.374+9G>C
NM_213674.1:c.374+9G>C , LRG_680t1:c.374+9G>C	NP_998839.1:n.374+9G>C
XR_929320.1:n.482+9G>C
XR_929321.1:n.482+9G>C
XR_929322.1:n.482+9G>C
XR_929323.1:n.482+9G>C
XR_929324.1:n.485+9G>C
XR_929325.1:n.482+9G>C
XM_017015087.2:c.374+9G>C	XP_016870576.1:n.374+9G>C
XM_017015088.2:c.374+9G>C	XP_016870577.1:n.374+9G>C
XM_017015090.2:c.374+9G>C	XP_016870579.1:n.374+9G>C
XM_017015091.2:c.374+9G>C	XP_016870580.1:n.374+9G>C
XM_017015092.2:c.374+9G>C	XP_016870581.1:n.374+9G>C
XM_017015093.2:c.374+9G>C	XP_016870582.1:n.374+9G>C
NM_001301226.2:c.374+9G>C	NP_001288155.1:n.374+9G>C
NM_003289.4:c.374+9G>C MANE Select	NP_003280.2:n.374+9G>C
NM_001301227.2:c.374+9G>C	NP_001288156.1:n.374+9G>C