Canonical Allele Identifier: CA5047140

Gene: TPM2

Linked Data

• ClinVar Variation Id: 366766
• ClinVar RCV Id: RCV000304035 ; RCV000399833
• dbSNP Id: rs781513152
• ExAC: 9:35683131 T / G
• gnomAD v2: 9-35683131-T-G
• gnomAD v3: 9-35683134-T-G
• gnomAD v4: 9-35683134-T-G
• MyVariant Identifiers: chr9:g.35683131T>G (hg19) ; chr9:g.35683134T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35683134T>G , CM000671.2:g.35683134T>G	GRCh38
NC_000009.11:g.35683131T>G , CM000671.1:g.35683131T>G	GRCh37
NC_000009.10:g.35673131T>G	NCBI36
NG_011620.1:g.11924A>C , LRG_680:g.11924A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.773-971A>C	ENSP00000367542.3:n.773-971A>C
ENST00000643485.1:n.715A>C
ENST00000644325.1:c.205-230A>C
ENST00000645482.3:c.*25A>C MANE Select	ENSP00000496494.2:n.*25A>C
ENST00000647435.1:c.*25A>C	ENSP00000495440.1:n.*25A>C
ENST00000329305.6:c.773-971A>C	ENSP00000367541.1:n.773-971A>C
ENST00000360958.6:c.*25A>C	ENSP00000354219.2:n.*25A>C
ENST00000378292.7:c.773-971A>C	ENSP00000367542.3:n.773-971A>C
ENST00000378300.9:c.773-230A>C	ENSP00000367550.5:n.773-230A>C
NM_001301226.1:c.773-971A>C	NP_001288155.1:n.773-971A>C
NM_001301227.1:c.*25A>C	NP_001288156.1:n.*25A>C
NM_003289.3:c.*25A>C , LRG_680t2:c.*25A>C	NP_003280.2:n.*25A>C
NM_213674.1:c.773-971A>C , LRG_680t1:c.773-971A>C	NP_998839.1:n.773-971A>C
XR_929320.1:n.1213-971A>C
XR_929321.1:n.1320A>C
XR_929322.1:n.988A>C
XR_929323.1:n.988A>C
XR_929324.1:n.960-971A>C
XR_929325.1:n.1064A>C
XM_017015087.2:c.*300A>C	XP_016870576.1:n.*300A>C
XM_017015088.2:c.*193-971A>C	XP_016870577.1:n.*193-971A>C
XM_017015090.2:c.*25A>C	XP_016870579.1:n.*25A>C
XM_017015091.2:c.*25A>C	XP_016870580.1:n.*25A>C
XM_017015092.2:c.*314A>C	XP_016870581.1:n.*314A>C
XM_017015093.2:c.*207-971A>C	XP_016870582.1:n.*207-971A>C
NM_001301226.2:c.773-971A>C	NP_001288155.1:n.773-971A>C
NM_003289.4:c.*25A>C MANE Select	NP_003280.2:n.*25A>C
NM_001301227.2:c.*25A>C	NP_001288156.1:n.*25A>C