Canonical Allele Identifier: CA588145252
Gene: TPM2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35683250G>T , CM000671.2:g.35683250G>T GRCh38
NC_000009.11:g.35683247G>T , CM000671.1:g.35683247G>T GRCh37
NC_000009.10:g.35673247G>T NCBI36
NG_011620.1:g.11808C>A , LRG_680:g.11808C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378292.9:c.772+996C>A ENSP00000367542.3:n.772+996C>A
ENST00000643485.1:n.608-9C>A
ENST00000644325.1:c.205-346C>A
ENST00000645482.3:c.773-9C>A MANE Select ENSP00000496494.2:n.773-9C>A
ENST00000647435.1:c.773-9C>A ENSP00000495440.1:n.773-9C>A
ENST00000329305.6:c.772+996C>A ENSP00000367541.1:n.772+996C>A
ENST00000360958.6:c.773-9C>A ENSP00000354219.2:n.773-9C>A
ENST00000378292.7:c.772+996C>A ENSP00000367542.3:n.772+996C>A
ENST00000378300.9:c.773-346C>A ENSP00000367550.5:n.773-346C>A
NM_001301226.1:c.772+996C>A NP_001288155.1:n.772+996C>A
NM_001301227.1:c.773-9C>A NP_001288156.1:n.773-9C>A
NM_003289.3:c.773-9C>A , LRG_680t2:c.773-9C>A NP_003280.2:n.773-9C>A
NM_213674.1:c.772+996C>A , LRG_680t1:c.772+996C>A NP_998839.1:n.772+996C>A
XR_929320.1:n.1212+996C>A
XR_929321.1:n.1213-9C>A
XR_929322.1:n.881-9C>A
XR_929323.1:n.881-9C>A
XR_929324.1:n.959+996C>A
XR_929325.1:n.957-9C>A
XM_017015087.2:c.*193-9C>A XP_016870576.1:n.*193-9C>A
XM_017015088.2:c.*192+996C>A XP_016870577.1:n.*192+996C>A
XM_017015090.2:c.773-9C>A XP_016870579.1:n.773-9C>A
XM_017015091.2:c.773-9C>A XP_016870580.1:n.773-9C>A
XM_017015092.2:c.*207-9C>A XP_016870581.1:n.*207-9C>A
XM_017015093.2:c.*206+996C>A XP_016870582.1:n.*206+996C>A
NM_001301226.2:c.772+996C>A NP_001288155.1:n.772+996C>A
NM_003289.4:c.773-9C>A MANE Select NP_003280.2:n.773-9C>A
NM_001301227.2:c.773-9C>A NP_001288156.1:n.773-9C>A