Canonical Allele Identifier: CA2795090744

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822711_32822712insAAAGTAAACTAAAAAGA , CM000674.2:g.32822711_32822712insAAAGTAAACTAAAAAGA	GRCh38
NC_000012.11:g.32975645_32975646insAAAGTAAACTAAAAAGA , CM000674.1:g.32975645_32975646insAAAGTAAACTAAAAAGA	GRCh37
NC_000012.10:g.32866912_32866913insAAAGTAAACTAAAAAGA	NCBI36
NG_009000.1:g.79135_79136insTCTTTTTAGTTTACTTT , LRG_398:g.79135_79136insTCTTTTTAGTTTACTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-81_187-80insTCTTTTTAGTTTACTTT
ENST00000700559.2:c.1675-81_1675-80insTCTTTTTAGTTTACTTT	ENSP00000515065.2:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
ENST00000700563.2:c.1675-81_1675-80insTCTTTTTAGTTTACTTT	ENSP00000515066.2:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
ENST00000546498.2:n.362-81_362-80insTCTTTTTAGTTTACTTT
ENST00000700555.1:c.115-81_115-80insTCTTTTTAGTTTACTTT	ENSP00000515062.1:n.115-81_115-80insTCTTTTTAGTTTACTTT
ENST00000700556.1:c.146-81_146-80insTCTTTTTAGTTTACTTT
ENST00000700559.1:c.890-81_890-80insTCTTTTTAGTTTACTTT
ENST00000700560.1:n.890-81_890-80insTCTTTTTAGTTTACTTT
ENST00000700561.1:n.1016-81_1016-80insTCTTTTTAGTTTACTTT
ENST00000700563.1:c.1629-81_1629-80insTCTTTTTAGTTTACTTT
ENST00000700564.1:n.1679-81_1679-80insTCTTTTTAGTTTACTTT
ENST00000070846.11:c.1807-81_1807-80insTCTTTTTAGTTTACTTT	ENSP00000070846.6:n.1807-81_1807-80insTCTTTTTAGTTTACTTT
ENST00000340811.9:c.1675-81_1675-80insTCTTTTTAGTTTACTTT MANE Select	ENSP00000342800.5:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
ENST00000070846.10:c.1807-81_1807-80insTCTTTTTAGTTTACTTT	ENSP00000070846.6:n.1807-81_1807-80insTCTTTTTAGTTTACTTT
ENST00000340811.8:c.1675-81_1675-80insTCTTTTTAGTTTACTTT	ENSP00000342800.4:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
ENST00000546498.1:n.362-81_362-80insTCTTTTTAGTTTACTTT
ENST00000552612.5:n.96-81_96-80insTCTTTTTAGTTTACTTT
ENST00000613243.1:c.1807-81_1807-80insTCTTTTTAGTTTACTTT	ENSP00000478295.1:n.1807-81_1807-80insTCTTTTTAGTTTACTTT
NM_001005242.2:c.1675-81_1675-80insTCTTTTTAGTTTACTTT	NP_001005242.2:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
NM_004572.3:c.1807-81_1807-80insTCTTTTTAGTTTACTTT , LRG_398t1:c.1807-81_1807-80insTCTTTTTAGTTTACTTT	NP_004563.2:n.1807-81_1807-80insTCTTTTTAGTTTACTTT
NM_001005242.3:c.1675-81_1675-80insTCTTTTTAGTTTACTTT MANE Select	NP_001005242.2:n.1675-81_1675-80insTCTTTTTAGTTTACTTT
NM_004572.4:c.1807-81_1807-80insTCTTTTTAGTTTACTTT	NP_004563.2:n.1807-81_1807-80insTCTTTTTAGTTTACTTT