Canonical Allele Identifier: CA373363229

Gene: TPM2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35683232T>C , CM000671.2:g.35683232T>C	GRCh38
NC_000009.11:g.35683229T>C , CM000671.1:g.35683229T>C	GRCh37
NC_000009.10:g.35673229T>C	NCBI36
NG_011620.1:g.11826A>G , LRG_680:g.11826A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003289.4:c.782A>G MANE Select	NP_003280.2:p.Tyr261Cys
ENST00000645482.3:c.782A>G MANE Select	ENSP00000496494.2:p.Tyr261Cys
NM_001301226.1:c.772+1014A>G	NP_001288155.1:n.772+1014A>G
NM_001301226.2:c.772+1014A>G	NP_001288155.1:n.772+1014A>G
NM_001301227.1:c.782A>G	NP_001288156.1:p.Tyr261Cys
NM_001301227.2:c.782A>G	NP_001288156.1:p.Tyr261Cys
NM_003289.3:c.782A>G , LRG_680t2:c.782A>G	NP_003280.2:p.Tyr261Cys
NM_213674.1:c.772+1014A>G , LRG_680t1:c.772+1014A>G	NP_998839.1:n.772+1014A>G
ENST00000329305.6:c.772+1014A>G	ENSP00000367541.1:n.772+1014A>G
ENST00000360958.6:c.782A>G	ENSP00000354219.2:p.Tyr261Cys
ENST00000378292.7:c.772+1014A>G	ENSP00000367542.3:n.772+1014A>G
ENST00000378292.9:c.772+1014A>G	ENSP00000367542.3:n.772+1014A>G
ENST00000378300.9:c.773-328A>G	ENSP00000367550.5:n.773-328A>G
ENST00000643485.1:n.617A>G
ENST00000644325.1:c.205-328A>G
ENST00000647435.1:c.782A>G	ENSP00000495440.1:p.Tyr261Cys
XM_017015087.2:c.*202A>G	XP_016870576.1:n.*202A>G
XM_017015088.2:c.*192+1014A>G	XP_016870577.1:n.*192+1014A>G
XM_017015090.2:c.782A>G	XP_016870579.1:p.Tyr261Cys
XM_017015091.2:c.782A>G	XP_016870580.1:p.Tyr261Cys
XM_017015092.2:c.*216A>G	XP_016870581.1:n.*216A>G
XM_017015093.2:c.*206+1014A>G	XP_016870582.1:n.*206+1014A>G
XR_929320.1:n.1212+1014A>G
XR_929321.1:n.1222A>G
XR_929322.1:n.890A>G
XR_929323.1:n.890A>G
XR_929324.1:n.959+1014A>G
XR_929325.1:n.966A>G