Canonical Allele Identifier: CA2795091208

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802556_32802557insTGGTCCA , CM000674.2:g.32802556_32802557insTGGTCCA	GRCh38
NC_000012.11:g.32955490_32955491insTGGTCCA , CM000674.1:g.32955490_32955491insTGGTCCA	GRCh37
NC_000012.10:g.32846757_32846758insTGGTCCA	NCBI36
NG_009000.1:g.99290_99291insTGGACCA , LRG_398:g.99290_99291insTGGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-1_517insTGGACCA
ENST00000700557.2:n.106-1_106insTGGACCA
ENST00000700559.2:c.2014-1_2014insTGGACCA	ENSP00000515065.2:n.2014-1_2014insTGGACCA
ENST00000546498.2:n.701-1_701insTGGACCA
ENST00000549461.2:n.553-1_553insTGGACCA
ENST00000700555.1:c.445-1_445insTGGACCA	ENSP00000515062.1:n.445-1_445insTGGACCA
ENST00000700556.1:c.485-1_485insTGGACCA
ENST00000700557.1:c.25-1_25insTGGACCA	ENSP00000515064.1:n.25-1_25insTGGACCA
ENST00000700558.1:n.228-1_228insTGGACCA
ENST00000700559.1:c.1229-1_1229insTGGACCA
ENST00000700560.1:n.1229-1_1229insTGGACCA
ENST00000700561.1:n.1355-1_1355insTGGACCA
ENST00000070846.11:c.2146-1_2146insTGGACCA	ENSP00000070846.6:n.2146-1_2146insTGGACCA
ENST00000340811.9:c.2014-1_2014insTGGACCA MANE Select	ENSP00000342800.5:n.2014-1_2014insTGGACCA
ENST00000070846.10:c.2146-1_2146insTGGACCA	ENSP00000070846.6:n.2146-1_2146insTGGACCA
ENST00000340811.8:c.2014-1_2014insTGGACCA	ENSP00000342800.4:n.2014-1_2014insTGGACCA
ENST00000549461.1:n.460-1_460insTGGACCA
ENST00000613243.1:c.2146-1_2146insTGGACCA	ENSP00000478295.1:n.2146-1_2146insTGGACCA
NM_001005242.2:c.2014-1_2014insTGGACCA	NP_001005242.2:n.2014-1_2014insTGGACCA
NM_004572.3:c.2146-1_2146insTGGACCA , LRG_398t1:c.2146-1_2146insTGGACCA	NP_004563.2:n.2146-1_2146insTGGACCA
NM_001005242.3:c.2014-1_2014insTGGACCA MANE Select	NP_001005242.2:n.2014-1_2014insTGGACCA
NM_004572.4:c.2146-1_2146insTGGACCA	NP_004563.2:n.2146-1_2146insTGGACCA