Canonical Allele Identifier: CA384357789

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949141G>C (hg19) ; chr12:g.32796207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796207G>C , CM000674.2:g.32796207G>C	GRCh38
NC_000012.11:g.32949141G>C , CM000674.1:g.32949141G>C	GRCh37
NC_000012.10:g.32840408G>C	NCBI36
NG_009000.1:g.105640C>G , LRG_398:g.105640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.762C>G
ENST00000700557.2:n.351C>G
ENST00000700559.2:c.2168-3476C>G	ENSP00000515065.2:n.2168-3476C>G
ENST00000546498.2:n.946C>G
ENST00000549461.2:n.751C>G
ENST00000700555.1:c.690C>G	ENSP00000515062.1:p.Tyr230Ter
ENST00000700556.1:c.730C>G
ENST00000700557.1:c.270C>G	ENSP00000515064.1:p.Tyr90Ter
ENST00000700558.1:n.473C>G
ENST00000700559.1:c.1383-3476C>G
ENST00000700560.1:n.1474C>G
ENST00000700561.1:n.1600C>G
ENST00000070846.11:c.2391C>G	ENSP00000070846.6:p.Tyr797Ter
ENST00000340811.9:c.2259C>G MANE Select	ENSP00000342800.5:p.Tyr753Ter
ENST00000070846.10:c.2391C>G	ENSP00000070846.6:p.Tyr797Ter
ENST00000340811.8:c.2259C>G	ENSP00000342800.4:p.Tyr753Ter
ENST00000613243.1:c.2391C>G	ENSP00000478295.1:p.Tyr797Ter
NM_001005242.2:c.2259C>G	NP_001005242.2:p.Tyr753Ter
NM_004572.3:c.2391C>G , LRG_398t1:c.2391C>G	NP_004563.2:p.Tyr797Ter
NM_001005242.3:c.2259C>G MANE Select	NP_001005242.2:p.Tyr753Ter
NM_004572.4:c.2391C>G	NP_004563.2:p.Tyr797Ter