Canonical Allele Identifier: CA384361846

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974385T>C (hg19) ; chr12:g.32821451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821451T>C , CM000674.2:g.32821451T>C	GRCh38
NC_000012.11:g.32974385T>C , CM000674.1:g.32974385T>C	GRCh37
NC_000012.10:g.32865652T>C	NCBI36
NG_009000.1:g.80396A>G , LRG_398:g.80396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.421A>G
ENST00000700559.2:c.1918A>G	ENSP00000515065.2:p.Arg640Gly
ENST00000700563.2:c.1918A>G	ENSP00000515066.2:p.Arg640Gly
ENST00000546498.2:n.605A>G
ENST00000549461.2:n.457A>G
ENST00000700555.1:c.349A>G	ENSP00000515062.1:p.Arg117Gly
ENST00000700556.1:c.389A>G
ENST00000700558.1:n.132A>G
ENST00000700559.1:c.1133A>G
ENST00000700560.1:n.1133A>G
ENST00000700561.1:n.1259A>G
ENST00000700562.1:n.456A>G
ENST00000700563.1:c.1872A>G
ENST00000700564.1:n.1922A>G
ENST00000070846.11:c.2050A>G	ENSP00000070846.6:p.Arg684Gly
ENST00000340811.9:c.1918A>G MANE Select	ENSP00000342800.5:p.Arg640Gly
ENST00000070846.10:c.2050A>G	ENSP00000070846.6:p.Arg684Gly
ENST00000340811.8:c.1918A>G	ENSP00000342800.4:p.Arg640Gly
ENST00000549461.1:n.364A>G
ENST00000552612.5:n.339A>G
ENST00000613243.1:c.2050A>G	ENSP00000478295.1:p.Arg684Gly
NM_001005242.2:c.1918A>G	NP_001005242.2:p.Arg640Gly
NM_004572.3:c.2050A>G , LRG_398t1:c.2050A>G	NP_004563.2:p.Arg684Gly
NM_001005242.3:c.1918A>G MANE Select	NP_001005242.2:p.Arg640Gly
NM_004572.4:c.2050A>G	NP_004563.2:p.Arg684Gly