Canonical Allele Identifier: CA604231048

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1585539
• ClinVar RCV Id: RCV002095479
• dbSNP Id: rs1373621892
• gnomAD v2: 12-33022014-G-A
• gnomAD v4: 12-32869080-G-A
• MyVariant Identifiers: chr12:g.33022014G>A (hg19) ; chr12:g.32869080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869080G>A , CM000674.2:g.32869080G>A	GRCh38
NC_000012.11:g.33022014G>A , CM000674.1:g.33022014G>A	GRCh37
NC_000012.10:g.32913281G>A	NCBI36
NG_009000.1:g.32767C>T , LRG_398:g.32767C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-18C>T	ENSP00000515065.2:n.1035-18C>T
ENST00000700563.2:c.1035-18C>T	ENSP00000515066.2:n.1035-18C>T
ENST00000700559.1:c.250-18C>T
ENST00000700560.1:n.250-18C>T
ENST00000700561.1:n.376-18C>T
ENST00000700563.1:c.989-18C>T
ENST00000700564.1:n.1039-18C>T
ENST00000700565.1:n.888-18C>T
ENST00000070846.11:c.1035-18C>T	ENSP00000070846.6:n.1035-18C>T
ENST00000340811.9:c.1035-18C>T MANE Select	ENSP00000342800.5:n.1035-18C>T
ENST00000070846.10:c.1035-18C>T	ENSP00000070846.6:n.1035-18C>T
ENST00000340811.8:c.1035-18C>T	ENSP00000342800.4:n.1035-18C>T
ENST00000613243.1:c.1035-18C>T	ENSP00000478295.1:n.1035-18C>T
NM_001005242.2:c.1035-18C>T	NP_001005242.2:n.1035-18C>T
NM_004572.3:c.1035-18C>T , LRG_398t1:c.1035-18C>T	NP_004563.2:n.1035-18C>T
NM_001005242.3:c.1035-18C>T MANE Select	NP_001005242.2:n.1035-18C>T
NM_004572.4:c.1035-18C>T	NP_004563.2:n.1035-18C>T