Canonical Allele Identifier: CA122421

Gene: TPM2

Linked Data

• ClinVar Variation Id: 12467
• ClinVar RCV Id: RCV000128687 ; RCV003231101
• dbSNP Id: rs137853307
• MyVariant Identifiers: chr9:g.35684762G>C (hg19) ; chr9:g.35684765G>C (hg38)
• PubMed: PMID:19047562

Genomic Alleles

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

Transcript Alleles

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