Canonical Allele Identifier: CA2026396954

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822509_32822512delinsTTTG , CM000674.2:g.32822509_32822512delinsTTTG	GRCh38
NC_000012.11:g.32975443_32975446delinsTTTG , CM000674.1:g.32975443_32975446delinsTTTG	GRCh37
NC_000012.10:g.32866710_32866713delinsTTTG	NCBI36
NG_009000.1:g.79335_79338delinsCAAA , LRG_398:g.79335_79338delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.306_309delinsCAAA
ENST00000700559.2:c.1794_1797delinsCAAA	ENSP00000515065.2:p.Asn598=
ENST00000700563.2:c.1794_1797delinsCAAA	ENSP00000515066.2:p.Asn598=
ENST00000546498.2:n.481_484delinsCAAA
ENST00000700555.1:c.234_237delinsCAAA	ENSP00000515062.1:p.Asn78=
ENST00000700556.1:c.265_268delinsCAAA
ENST00000700559.1:c.1009_1012delinsCAAA
ENST00000700560.1:n.1009_1012delinsCAAA
ENST00000700561.1:n.1135_1138delinsCAAA
ENST00000700563.1:c.1748_1751delinsCAAA
ENST00000700564.1:n.1798_1801delinsCAAA
ENST00000070846.11:c.1926_1929delinsCAAA	ENSP00000070846.6:p.Asn642=
ENST00000340811.9:c.1794_1797delinsCAAA MANE Select	ENSP00000342800.5:p.Asn598=
ENST00000070846.10:c.1926_1929delinsCAAA	ENSP00000070846.6:p.Asn642=
ENST00000340811.8:c.1794_1797delinsCAAA	ENSP00000342800.4:p.Asn598=
ENST00000546498.1:n.481_484delinsCAAA
ENST00000552612.5:n.215_218delinsCAAA
ENST00000613243.1:c.1926_1929delinsCAAA	ENSP00000478295.1:p.Asn642=
NM_001005242.2:c.1794_1797delinsCAAA	NP_001005242.2:p.Asn598=
NM_004572.3:c.1926_1929delinsCAAA , LRG_398t1:c.1926_1929delinsCAAA	NP_004563.2:p.Asn642=
NM_001005242.3:c.1794_1797delinsCAAA MANE Select	NP_001005242.2:p.Asn598=
NM_004572.4:c.1926_1929delinsCAAA	NP_004563.2:p.Asn642=