Canonical Allele Identifier: CA384361906

Gene: PKP2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821473C>G , CM000674.2:g.32821473C>G	GRCh38
NC_000012.11:g.32974407C>G , CM000674.1:g.32974407C>G	GRCh37
NC_000012.10:g.32865674C>G	NCBI36
NG_009000.1:g.80374G>C , LRG_398:g.80374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.399G>C
ENST00000700559.2:c.1896G>C	ENSP00000515065.2:p.Trp632Cys
ENST00000700563.2:c.1896G>C	ENSP00000515066.2:p.Trp632Cys
ENST00000546498.2:n.583G>C
ENST00000549461.2:n.435G>C
ENST00000700555.1:c.327G>C	ENSP00000515062.1:p.Trp109Cys
ENST00000700556.1:c.367G>C
ENST00000700558.1:n.110G>C
ENST00000700559.1:c.1111G>C
ENST00000700560.1:n.1111G>C
ENST00000700561.1:n.1237G>C
ENST00000700562.1:n.434G>C
ENST00000700563.1:c.1850G>C
ENST00000700564.1:n.1900G>C
ENST00000070846.11:c.2028G>C	ENSP00000070846.6:p.Trp676Cys
ENST00000340811.9:c.1896G>C MANE Select	ENSP00000342800.5:p.Trp632Cys
ENST00000070846.10:c.2028G>C	ENSP00000070846.6:p.Trp676Cys
ENST00000340811.8:c.1896G>C	ENSP00000342800.4:p.Trp632Cys
ENST00000546498.1:n.583G>C
ENST00000549461.1:n.342G>C
ENST00000552612.5:n.317G>C
ENST00000613243.1:c.2028G>C	ENSP00000478295.1:p.Trp676Cys
NM_001005242.2:c.1896G>C	NP_001005242.2:p.Trp632Cys
NM_004572.3:c.2028G>C , LRG_398t1:c.2028G>C	NP_004563.2:p.Trp676Cys
NM_001005242.3:c.1896G>C MANE Select	NP_001005242.2:p.Trp632Cys
NM_004572.4:c.2028G>C	NP_004563.2:p.Trp676Cys