Canonical Allele Identifier: CA5047420

Gene: TPM2

Linked Data

• ClinVar Variation Id: 1576142
• ClinVar RCV Id: RCV002085228
• dbSNP Id: rs749197310
• ExAC: 9:35689149 G / A
• gnomAD v2: 9-35689149-G-A
• gnomAD v3: 9-35689152-G-A
• gnomAD v4: 9-35689152-G-A
• MyVariant Identifiers: chr9:g.35689149G>A (hg19) ; chr9:g.35689152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35689152G>A , CM000671.2:g.35689152G>A	GRCh38
NC_000009.11:g.35689149G>A , CM000671.1:g.35689149G>A	GRCh37
NC_000009.10:g.35679149G>A	NCBI36
NG_011620.1:g.5906C>T , LRG_680:g.5906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378292.9:c.234C>T	ENSP00000367542.3:p.Ala78=
ENST00000645482.3:c.234C>T MANE Select	ENSP00000496494.2:p.Ala78=
ENST00000647435.1:c.234C>T	ENSP00000495440.1:p.Ala78=
ENST00000329305.6:c.234C>T	ENSP00000367541.1:p.Ala78=
ENST00000360958.6:c.234C>T	ENSP00000354219.2:p.Ala78=
ENST00000378292.7:c.234C>T	ENSP00000367542.3:p.Ala78=
ENST00000378300.9:c.234C>T	ENSP00000367550.5:p.Ala78=
ENST00000471212.5:n.317C>T
ENST00000604975.1:n.222+552C>T
NM_001301226.1:c.234C>T	NP_001288155.1:p.Ala78=
NM_001301227.1:c.234C>T	NP_001288156.1:p.Ala78=
NM_003289.3:c.234C>T , LRG_680t2:c.234C>T	NP_003280.2:p.Ala78=
NM_213674.1:c.234C>T , LRG_680t1:c.234C>T	NP_998839.1:p.Ala78=
XR_929320.1:n.342C>T
XR_929321.1:n.342C>T
XR_929322.1:n.342C>T
XR_929323.1:n.342C>T
XR_929324.1:n.345C>T
XR_929325.1:n.342C>T
XM_017015087.2:c.234C>T	XP_016870576.1:p.Ala78=
XM_017015088.2:c.234C>T	XP_016870577.1:p.Ala78=
XM_017015090.2:c.234C>T	XP_016870579.1:p.Ala78=
XM_017015091.2:c.234C>T	XP_016870580.1:p.Ala78=
XM_017015092.2:c.234C>T	XP_016870581.1:p.Ala78=
XM_017015093.2:c.234C>T	XP_016870582.1:p.Ala78=
NM_001301226.2:c.234C>T	NP_001288155.1:p.Ala78=
NM_003289.4:c.234C>T MANE Select	NP_003280.2:p.Ala78=
NM_001301227.2:c.234C>T	NP_001288156.1:p.Ala78=