Canonical Allele Identifier: CA2026396929

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822489_32822490delinsCT , CM000674.2:g.32822489_32822490delinsCT	GRCh38
NC_000012.11:g.32975423_32975424delinsCT , CM000674.1:g.32975423_32975424delinsCT	GRCh37
NC_000012.10:g.32866690_32866691delinsCT	NCBI36
NG_009000.1:g.79357_79358delinsAG , LRG_398:g.79357_79358delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.328_329delinsAG
ENST00000700559.2:c.1816_1817delinsAG	ENSP00000515065.2:p.Ser606=
ENST00000700563.2:c.1816_1817delinsAG	ENSP00000515066.2:p.Ser606=
ENST00000546498.2:n.503_504delinsAG
ENST00000700555.1:c.256_257delinsAG	ENSP00000515062.1:p.Ser86=
ENST00000700556.1:c.287_288delinsAG
ENST00000700559.1:c.1031_1032delinsAG
ENST00000700560.1:n.1031_1032delinsAG
ENST00000700561.1:n.1157_1158delinsAG
ENST00000700563.1:c.1770_1771delinsAG
ENST00000700564.1:n.1820_1821delinsAG
ENST00000070846.11:c.1948_1949delinsAG	ENSP00000070846.6:p.Ser650=
ENST00000340811.9:c.1816_1817delinsAG MANE Select	ENSP00000342800.5:p.Ser606=
ENST00000070846.10:c.1948_1949delinsAG	ENSP00000070846.6:p.Ser650=
ENST00000340811.8:c.1816_1817delinsAG	ENSP00000342800.4:p.Ser606=
ENST00000546498.1:n.503_504delinsAG
ENST00000552612.5:n.237_238delinsAG
ENST00000613243.1:c.1948_1949delinsAG	ENSP00000478295.1:p.Ser650=
NM_001005242.2:c.1816_1817delinsAG	NP_001005242.2:p.Ser606=
NM_004572.3:c.1948_1949delinsAG , LRG_398t1:c.1948_1949delinsAG	NP_004563.2:p.Ser650=
NM_001005242.3:c.1816_1817delinsAG MANE Select	NP_001005242.2:p.Ser606=
NM_004572.4:c.1948_1949delinsAG	NP_004563.2:p.Ser650=