Canonical Allele Identifier: CA946315259

Gene: PKP2

Linked Data

• dbSNP Id: rs1956125006
• gnomAD v3: 12-32796387-C-A
• gnomAD v4: 12-32796387-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796387C>A , CM000674.2:g.32796387C>A	GRCh38
NC_000012.11:g.32949321C>A , CM000674.1:g.32949321C>A	GRCh37
NC_000012.10:g.32840588C>A	NCBI36
NG_009000.1:g.105460G>T , LRG_398:g.105460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-89G>T
ENST00000700557.2:n.260-89G>T
ENST00000700559.2:c.2168-3656G>T	ENSP00000515065.2:n.2168-3656G>T
ENST00000546498.2:n.855-89G>T
ENST00000549461.2:n.660-89G>T
ENST00000700555.1:c.599-89G>T	ENSP00000515062.1:n.599-89G>T
ENST00000700556.1:c.639-89G>T
ENST00000700557.1:c.179-89G>T	ENSP00000515064.1:n.179-89G>T
ENST00000700558.1:n.382-89G>T
ENST00000700559.1:c.1383-3656G>T
ENST00000700560.1:n.1383-89G>T
ENST00000700561.1:n.1509-89G>T
ENST00000070846.11:c.2300-89G>T	ENSP00000070846.6:n.2300-89G>T
ENST00000340811.9:c.2168-89G>T MANE Select	ENSP00000342800.5:n.2168-89G>T
ENST00000070846.10:c.2300-89G>T	ENSP00000070846.6:n.2300-89G>T
ENST00000340811.8:c.2168-89G>T	ENSP00000342800.4:n.2168-89G>T
ENST00000613243.1:c.2300-89G>T	ENSP00000478295.1:n.2300-89G>T
NM_001005242.2:c.2168-89G>T	NP_001005242.2:n.2168-89G>T
NM_004572.3:c.2300-89G>T , LRG_398t1:c.2300-89G>T	NP_004563.2:n.2300-89G>T
NM_001005242.3:c.2168-89G>T MANE Select	NP_001005242.2:n.2168-89G>T
NM_004572.4:c.2300-89G>T	NP_004563.2:n.2300-89G>T