Canonical Allele Identifier: CA384359504

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955387A>C (hg19) ; chr12:g.32802453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802453A>C , CM000674.2:g.32802453A>C	GRCh38
NC_000012.11:g.32955387A>C , CM000674.1:g.32955387A>C	GRCh37
NC_000012.10:g.32846654A>C	NCBI36
NG_009000.1:g.99394T>G , LRG_398:g.99394T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.620T>G
ENST00000700557.2:n.209T>G
ENST00000700559.2:c.2117T>G	ENSP00000515065.2:p.Ile706Ser
ENST00000546498.2:n.804T>G
ENST00000549461.2:n.656T>G
ENST00000700555.1:c.548T>G	ENSP00000515062.1:p.Ile183Ser
ENST00000700556.1:c.588T>G
ENST00000700557.1:c.128T>G	ENSP00000515064.1:p.Ile43Ser
ENST00000700558.1:n.331T>G
ENST00000700559.1:c.1332T>G
ENST00000700560.1:n.1332T>G
ENST00000700561.1:n.1458T>G
ENST00000070846.11:c.2249T>G	ENSP00000070846.6:p.Ile750Ser
ENST00000340811.9:c.2117T>G MANE Select	ENSP00000342800.5:p.Ile706Ser
ENST00000070846.10:c.2249T>G	ENSP00000070846.6:p.Ile750Ser
ENST00000340811.8:c.2117T>G	ENSP00000342800.4:p.Ile706Ser
ENST00000549461.1:n.563T>G
ENST00000613243.1:c.2249T>G	ENSP00000478295.1:p.Ile750Ser
NM_001005242.2:c.2117T>G	NP_001005242.2:p.Ile706Ser
NM_004572.3:c.2249T>G , LRG_398t1:c.2249T>G	NP_004563.2:p.Ile750Ser
NM_001005242.3:c.2117T>G MANE Select	NP_001005242.2:p.Ile706Ser
NM_004572.4:c.2249T>G	NP_004563.2:p.Ile750Ser