Canonical Allele Identifier: CA2026397234

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822738_32822739delinsTG , CM000674.2:g.32822738_32822739delinsTG	GRCh38
NC_000012.11:g.32975672_32975673delinsTG , CM000674.1:g.32975672_32975673delinsTG	GRCh37
NC_000012.10:g.32866939_32866940delinsTG	NCBI36
NG_009000.1:g.79108_79109delinsCA , LRG_398:g.79108_79109delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-108_187-107delinsCA
ENST00000700559.2:c.1675-108_1675-107delinsCA	ENSP00000515065.2:n.1675-108_1675-107delinsCA
ENST00000700563.2:c.1675-108_1675-107delinsCA	ENSP00000515066.2:n.1675-108_1675-107delinsCA
ENST00000546498.2:n.362-108_362-107delinsCA
ENST00000700555.1:c.115-108_115-107delinsCA	ENSP00000515062.1:n.115-108_115-107delinsCA
ENST00000700556.1:c.146-108_146-107delinsCA
ENST00000700559.1:c.890-108_890-107delinsCA
ENST00000700560.1:n.890-108_890-107delinsCA
ENST00000700561.1:n.1016-108_1016-107delinsCA
ENST00000700563.1:c.1629-108_1629-107delinsCA
ENST00000700564.1:n.1679-108_1679-107delinsCA
ENST00000070846.11:c.1807-108_1807-107delinsCA	ENSP00000070846.6:n.1807-108_1807-107delinsCA
ENST00000340811.9:c.1675-108_1675-107delinsCA MANE Select	ENSP00000342800.5:n.1675-108_1675-107delinsCA
ENST00000070846.10:c.1807-108_1807-107delinsCA	ENSP00000070846.6:n.1807-108_1807-107delinsCA
ENST00000340811.8:c.1675-108_1675-107delinsCA	ENSP00000342800.4:n.1675-108_1675-107delinsCA
ENST00000546498.1:n.362-108_362-107delinsCA
ENST00000552612.5:n.96-108_96-107delinsCA
ENST00000613243.1:c.1807-108_1807-107delinsCA	ENSP00000478295.1:n.1807-108_1807-107delinsCA
NM_001005242.2:c.1675-108_1675-107delinsCA	NP_001005242.2:n.1675-108_1675-107delinsCA
NM_004572.3:c.1807-108_1807-107delinsCA , LRG_398t1:c.1807-108_1807-107delinsCA	NP_004563.2:n.1807-108_1807-107delinsCA
NM_001005242.3:c.1675-108_1675-107delinsCA MANE Select	NP_001005242.2:n.1675-108_1675-107delinsCA
NM_004572.4:c.1807-108_1807-107delinsCA	NP_004563.2:n.1807-108_1807-107delinsCA