Canonical Allele Identifier: CA2026396848

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822389_32822392delinsAGAC , CM000674.2:g.32822389_32822392delinsAGAC	GRCh38
NC_000012.11:g.32975323_32975326delinsAGAC , CM000674.1:g.32975323_32975326delinsAGAC	GRCh37
NC_000012.10:g.32866590_32866593delinsAGAC	NCBI36
NG_009000.1:g.79455_79458delinsGTCT , LRG_398:g.79455_79458delinsGTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.342+84_342+87delinsGTCT
ENST00000700559.2:c.1839+75_1839+78delinsGTCT	ENSP00000515065.2:n.1839+75_1839+78delins...
ENST00000700563.2:c.1839+75_1839+78delinsGTCT	ENSP00000515066.2:n.1839+75_1839+78delins...
ENST00000546498.2:n.526+75_526+78delinsGTCT
ENST00000700555.1:c.270+84_270+87delinsGTCT	ENSP00000515062.1:n.270+84_270+87delinsGT...
ENST00000700556.1:c.310+75_310+78delinsGTCT
ENST00000700559.1:c.1054+75_1054+78delinsGTCT
ENST00000700560.1:n.1054+75_1054+78delinsGTCT
ENST00000700561.1:n.1180+75_1180+78delinsGTCT
ENST00000700563.1:c.1793+75_1793+78delinsGTCT
ENST00000700564.1:n.1843+75_1843+78delinsGTCT
ENST00000070846.11:c.1971+75_1971+78delinsGTCT	ENSP00000070846.6:n.1971+75_1971+78delins...
ENST00000340811.9:c.1839+75_1839+78delinsGTCT MANE Select	ENSP00000342800.5:n.1839+75_1839+78delins...
ENST00000070846.10:c.1971+75_1971+78delinsGTCT	ENSP00000070846.6:n.1971+75_1971+78delins...
ENST00000340811.8:c.1839+75_1839+78delinsGTCT	ENSP00000342800.4:n.1839+75_1839+78delins...
ENST00000546498.1:n.526+75_526+78delinsGTCT
ENST00000552612.5:n.260+75_260+78delinsGTCT
ENST00000613243.1:c.1971+75_1971+78delinsGTCT	ENSP00000478295.1:n.1971+75_1971+78delins...
NM_001005242.2:c.1839+75_1839+78delinsGTCT	NP_001005242.2:n.1839+75_1839+78delinsGTC...
NM_004572.3:c.1971+75_1971+78delinsGTCT , LRG_398t1:c.1971+75_1971+78delinsGTCT	NP_004563.2:n.1971+75_1971+78delinsGTCT
NM_001005242.3:c.1839+75_1839+78delinsGTCT MANE Select	NP_001005242.2:n.1839+75_1839+78delinsGTC...
NM_004572.4:c.1971+75_1971+78delinsGTCT	NP_004563.2:n.1971+75_1971+78delinsGTCT