Canonical Allele Identifier: CA2618222980

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796376-T-TCCCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796376_32796377insCCCAAA , CM000674.2:g.32796376_32796377insCCCAAA	GRCh38
NC_000012.11:g.32949310_32949311insCCCAAA , CM000674.1:g.32949310_32949311insCCCAAA	GRCh37
NC_000012.10:g.32840577_32840578insCCCAAA	NCBI36
NG_009000.1:g.105470_105471insTTTGGG , LRG_398:g.105470_105471insTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-79_671-78insTTTGGG
ENST00000700557.2:n.260-79_260-78insTTTGGG
ENST00000700559.2:c.2168-3646_2168-3645insTTTGGG	ENSP00000515065.2:n.2168-3646_2168-3645insTTTGGG
ENST00000546498.2:n.855-79_855-78insTTTGGG
ENST00000549461.2:n.660-79_660-78insTTTGGG
ENST00000700555.1:c.599-79_599-78insTTTGGG	ENSP00000515062.1:n.599-79_599-78insTTTGGG
ENST00000700556.1:c.639-79_639-78insTTTGGG
ENST00000700557.1:c.179-79_179-78insTTTGGG	ENSP00000515064.1:n.179-79_179-78insTTTGGG
ENST00000700558.1:n.382-79_382-78insTTTGGG
ENST00000700559.1:c.1383-3646_1383-3645insTTTGGG
ENST00000700560.1:n.1383-79_1383-78insTTTGGG
ENST00000700561.1:n.1509-79_1509-78insTTTGGG
ENST00000070846.11:c.2300-79_2300-78insTTTGGG	ENSP00000070846.6:n.2300-79_2300-78insTTTGGG
ENST00000340811.9:c.2168-79_2168-78insTTTGGG MANE Select	ENSP00000342800.5:n.2168-79_2168-78insTTTGGG
ENST00000070846.10:c.2300-79_2300-78insTTTGGG	ENSP00000070846.6:n.2300-79_2300-78insTTTGGG
ENST00000340811.8:c.2168-79_2168-78insTTTGGG	ENSP00000342800.4:n.2168-79_2168-78insTTTGGG
ENST00000613243.1:c.2300-79_2300-78insTTTGGG	ENSP00000478295.1:n.2300-79_2300-78insTTTGGG
NM_001005242.2:c.2168-79_2168-78insTTTGGG	NP_001005242.2:n.2168-79_2168-78insTTTGGG
NM_004572.3:c.2300-79_2300-78insTTTGGG , LRG_398t1:c.2300-79_2300-78insTTTGGG	NP_004563.2:n.2300-79_2300-78insTTTGGG
NM_001005242.3:c.2168-79_2168-78insTTTGGG MANE Select	NP_001005242.2:n.2168-79_2168-78insTTTGGG
NM_004572.4:c.2300-79_2300-78insTTTGGG	NP_004563.2:n.2300-79_2300-78insTTTGGG