Canonical Allele Identifier: CA033159

Gene: PKP2

Linked Data

• ClinVar Variation Id: 374966
• ClinVar RCV Id: RCV000415701 ; RCV000618843 ; RCV000599924 ; RCV000777608
• dbSNP Id: rs144018320
• ExAC: 12:32955486 G / A
• gnomAD v2: 12-32955486-G-A
• gnomAD v3: 12-32802552-G-A
• gnomAD v4: 12-32802552-G-A
• MyVariant Identifiers: chr12:g.32955486G>A (hg19) ; chr12:g.32802552G>A (hg38)
• PubMed: PMID:22214898 ; PMID:23514727 ; PMID:27005929

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802552G>A , CM000674.2:g.32802552G>A	GRCh38
NC_000012.11:g.32955486G>A , CM000674.1:g.32955486G>A	GRCh37
NC_000012.10:g.32846753G>A	NCBI36
NG_009000.1:g.99295C>T , LRG_398:g.99295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.521C>T
ENST00000700557.2:n.110C>T
ENST00000700559.2:c.2018C>T	ENSP00000515065.2:p.Pro673Leu
ENST00000546498.2:n.705C>T
ENST00000549461.2:n.557C>T
ENST00000700555.1:c.449C>T	ENSP00000515062.1:p.Pro150Leu
ENST00000700556.1:c.489C>T
ENST00000700557.1:c.29C>T	ENSP00000515064.1:p.Pro10Leu
ENST00000700558.1:n.232C>T
ENST00000700559.1:c.1233C>T
ENST00000700560.1:n.1233C>T
ENST00000700561.1:n.1359C>T
ENST00000070846.11:c.2150C>T	ENSP00000070846.6:p.Pro717Leu
ENST00000340811.9:c.2018C>T MANE Select	ENSP00000342800.5:p.Pro673Leu
ENST00000070846.10:c.2150C>T	ENSP00000070846.6:p.Pro717Leu
ENST00000340811.8:c.2018C>T	ENSP00000342800.4:p.Pro673Leu
ENST00000549461.1:n.464C>T
ENST00000613243.1:c.2150C>T	ENSP00000478295.1:p.Pro717Leu
NM_001005242.2:c.2018C>T	NP_001005242.2:p.Pro673Leu
NM_004572.3:c.2150C>T , LRG_398t1:c.2150C>T	NP_004563.2:p.Pro717Leu
NM_001005242.3:c.2018C>T MANE Select	NP_001005242.2:p.Pro673Leu
NM_004572.4:c.2150C>T	NP_004563.2:p.Pro717Leu