Canonical Allele Identifier: CA384359129

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955335A>C (hg19) ; chr12:g.32802401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802401A>C , CM000674.2:g.32802401A>C	GRCh38
NC_000012.11:g.32955335A>C , CM000674.1:g.32955335A>C	GRCh37
NC_000012.10:g.32846602A>C	NCBI36
NG_009000.1:g.99446T>G , LRG_398:g.99446T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.670+2T>G
ENST00000700557.2:n.259+2T>G
ENST00000700559.2:c.2167+2T>G	ENSP00000515065.2:n.2167+2T>G
ENST00000546498.2:n.854+2T>G
ENST00000549461.2:n.659+49T>G
ENST00000700555.1:c.598+2T>G	ENSP00000515062.1:n.598+2T>G
ENST00000700556.1:c.638+2T>G
ENST00000700557.1:c.178+2T>G	ENSP00000515064.1:n.178+2T>G
ENST00000700558.1:n.381+2T>G
ENST00000700559.1:c.1382+2T>G
ENST00000700560.1:n.1382+2T>G
ENST00000700561.1:n.1508+2T>G
ENST00000070846.11:c.2299+2T>G	ENSP00000070846.6:n.2299+2T>G
ENST00000340811.9:c.2167+2T>G MANE Select	ENSP00000342800.5:n.2167+2T>G
ENST00000070846.10:c.2299+2T>G	ENSP00000070846.6:n.2299+2T>G
ENST00000340811.8:c.2167+2T>G	ENSP00000342800.4:n.2167+2T>G
ENST00000613243.1:c.2299+2T>G	ENSP00000478295.1:n.2299+2T>G
NM_001005242.2:c.2167+2T>G	NP_001005242.2:n.2167+2T>G
NM_004572.3:c.2299+2T>G , LRG_398t1:c.2299+2T>G	NP_004563.2:n.2299+2T>G
NM_001005242.3:c.2167+2T>G MANE Select	NP_001005242.2:n.2167+2T>G
NM_004572.4:c.2299+2T>G	NP_004563.2:n.2299+2T>G