Canonical Allele Identifier: CA2568803110

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822879_32822880insTG , CM000674.2:g.32822879_32822880insTG	GRCh38
NC_000012.11:g.32975813_32975814insTG , CM000674.1:g.32975813_32975814insTG	GRCh37
NC_000012.10:g.32867080_32867081insTG	NCBI36
NG_009000.1:g.78967_78968insCA , LRG_398:g.78967_78968insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-249_187-248insCA
ENST00000700559.2:c.1675-249_1675-248insCA	ENSP00000515065.2:n.1675-249_1675-248insCA
ENST00000700563.2:c.1675-249_1675-248insCA	ENSP00000515066.2:n.1675-249_1675-248insCA
ENST00000546498.2:n.362-249_362-248insCA
ENST00000700555.1:c.115-249_115-248insCA	ENSP00000515062.1:n.115-249_115-248insCA
ENST00000700556.1:c.146-249_146-248insCA
ENST00000700559.1:c.890-249_890-248insCA
ENST00000700560.1:n.890-249_890-248insCA
ENST00000700561.1:n.1016-249_1016-248insCA
ENST00000700563.1:c.1629-249_1629-248insCA
ENST00000700564.1:n.1679-249_1679-248insCA
ENST00000070846.11:c.1807-249_1807-248insCA	ENSP00000070846.6:n.1807-249_1807-248insCA
ENST00000340811.9:c.1675-249_1675-248insCA MANE Select	ENSP00000342800.5:n.1675-249_1675-248insCA
ENST00000070846.10:c.1807-249_1807-248insCA	ENSP00000070846.6:n.1807-249_1807-248insCA
ENST00000340811.8:c.1675-249_1675-248insCA	ENSP00000342800.4:n.1675-249_1675-248insCA
ENST00000546498.1:n.362-249_362-248insCA
ENST00000552612.5:n.96-249_96-248insCA
ENST00000613243.1:c.1807-249_1807-248insCA	ENSP00000478295.1:n.1807-249_1807-248insCA
NM_001005242.2:c.1675-249_1675-248insCA	NP_001005242.2:n.1675-249_1675-248insCA
NM_004572.3:c.1807-249_1807-248insCA , LRG_398t1:c.1807-249_1807-248insCA	NP_004563.2:n.1807-249_1807-248insCA
NM_001005242.3:c.1675-249_1675-248insCA MANE Select	NP_001005242.2:n.1675-249_1675-248insCA
NM_004572.4:c.1807-249_1807-248insCA	NP_004563.2:n.1807-249_1807-248insCA