Canonical Allele Identifier: CA10642002

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792172T>C , CM000674.2:g.32792172T>C	GRCh38
NC_000012.11:g.32945106T>C , CM000674.1:g.32945106T>C	GRCh37
NC_000012.10:g.32836373T>C	NCBI36
NG_009000.1:g.109675A>G , LRG_398:g.109675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1269A>G
ENST00000700557.2:n.858A>G
ENST00000700559.2:c.*107A>G	ENSP00000515065.2:n.*107A>G
ENST00000546498.2:n.1453A>G
ENST00000549461.2:n.1258A>G
ENST00000700555.1:c.*252A>G	ENSP00000515062.1:n.*252A>G
ENST00000700556.1:c.1237A>G
ENST00000700557.1:c.*252A>G	ENSP00000515064.1:n.*252A>G
ENST00000700558.1:n.980A>G
ENST00000700559.1:c.1791A>G
ENST00000700560.1:n.2132A>G
ENST00000070846.11:c.*252A>G	ENSP00000070846.6:n.*252A>G
ENST00000340811.9:c.*252A>G MANE Select	ENSP00000342800.5:n.*252A>G
ENST00000070846.10:c.*252A>G	ENSP00000070846.6:n.*252A>G
ENST00000340811.8:c.*252A>G	ENSP00000342800.4:n.*252A>G
ENST00000546769.1:n.553A>G
NM_001005242.2:c.*252A>G	NP_001005242.2:n.*252A>G
NM_004572.3:c.*252A>G , LRG_398t1:c.*252A>G	NP_004563.2:n.*252A>G
NM_001005242.3:c.*252A>G MANE Select	NP_001005242.2:n.*252A>G
NM_004572.4:c.*252A>G	NP_004563.2:n.*252A>G