Canonical Allele Identifier: CA919057860

Gene: PKP2

Linked Data

• dbSNP Id: rs746936605
• gnomAD v3: 12-32796308-G-GAAAAA
• gnomAD v4: 12-32796308-G-GAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796314_32796318dup , CM000674.2:g.32796314_32796318dup	GRCh38
NC_000012.11:g.32949248_32949252dup , CM000674.1:g.32949248_32949252dup	GRCh37
NC_000012.10:g.32840515_32840519dup	NCBI36
NG_009000.1:g.105534_105538dup , LRG_398:g.105534_105538dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-15_671-11dup
ENST00000700557.2:n.260-15_260-11dup
ENST00000700559.2:c.2168-3582_2168-3578dup	ENSP00000515065.2:n.2168-3582_2168-3578dup
ENST00000546498.2:n.855-15_855-11dup
ENST00000549461.2:n.660-15_660-11dup
ENST00000700555.1:c.599-15_599-11dup	ENSP00000515062.1:n.599-15_599-11dup
ENST00000700556.1:c.639-15_639-11dup
ENST00000700557.1:c.179-15_179-11dup	ENSP00000515064.1:n.179-15_179-11dup
ENST00000700558.1:n.382-15_382-11dup
ENST00000700559.1:c.1383-3582_1383-3578dup
ENST00000700560.1:n.1383-15_1383-11dup
ENST00000700561.1:n.1509-15_1509-11dup
ENST00000070846.11:c.2300-15_2300-11dup	ENSP00000070846.6:n.2300-15_2300-11dup
ENST00000340811.9:c.2168-15_2168-11dup MANE Select	ENSP00000342800.5:n.2168-15_2168-11dup
ENST00000070846.10:c.2300-15_2300-11dup	ENSP00000070846.6:n.2300-15_2300-11dup
ENST00000340811.8:c.2168-15_2168-11dup	ENSP00000342800.4:n.2168-15_2168-11dup
ENST00000613243.1:c.2300-15_2300-11dup	ENSP00000478295.1:n.2300-15_2300-11dup
NM_001005242.2:c.2168-15_2168-11dup	NP_001005242.2:n.2168-15_2168-11dup
NM_004572.3:c.2300-15_2300-11dup , LRG_398t1:c.2300-15_2300-11dup	NP_004563.2:n.2300-15_2300-11dup
NM_001005242.3:c.2168-15_2168-11dup MANE Select	NP_001005242.2:n.2168-15_2168-11dup
NM_004572.4:c.2300-15_2300-11dup	NP_004563.2:n.2300-15_2300-11dup