Canonical Allele Identifier: CA027239

Gene: PKP2

Linked Data

• ClinVar Variation Id: 927279
• ClinVar RCV Id: RCV001190419 ; RCV001692362 ; RCV002069117 ; RCV004010435
• dbSNP Id: rs200137461
• ExAC: 12:33003920 C / T
• gnomAD v2: 12-33003920-C-T
• gnomAD v3: 12-32850986-C-T
• gnomAD v4: 12-32850986-C-T
• MyVariant Identifiers: chr12:g.33003920C>T (hg19) ; chr12:g.32850986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850986C>T , CM000674.2:g.32850986C>T	GRCh38
NC_000012.11:g.33003920C>T , CM000674.1:g.33003920C>T	GRCh37
NC_000012.10:g.32895187C>T	NCBI36
NG_009000.1:g.50861G>A , LRG_398:g.50861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-13G>A	ENSP00000515065.2:n.1171-13G>A
ENST00000700563.2:c.1171-13G>A	ENSP00000515066.2:n.1171-13G>A
ENST00000700559.1:c.386-13G>A
ENST00000700560.1:n.386-13G>A
ENST00000700561.1:n.512-13G>A
ENST00000700563.1:c.1125-13G>A
ENST00000700564.1:n.1175-13G>A
ENST00000700565.1:n.1024-13G>A
ENST00000070846.11:c.1171-13G>A	ENSP00000070846.6:n.1171-13G>A
ENST00000340811.9:c.1171-13G>A MANE Select	ENSP00000342800.5:n.1171-13G>A
ENST00000070846.10:c.1171-13G>A	ENSP00000070846.6:n.1171-13G>A
ENST00000340811.8:c.1171-13G>A	ENSP00000342800.4:n.1171-13G>A
ENST00000613243.1:c.1171-13G>A	ENSP00000478295.1:n.1171-13G>A
NM_001005242.2:c.1171-13G>A	NP_001005242.2:n.1171-13G>A
NM_004572.3:c.1171-13G>A , LRG_398t1:c.1171-13G>A	NP_004563.2:n.1171-13G>A
NM_001005242.3:c.1171-13G>A MANE Select	NP_001005242.2:n.1171-13G>A
NM_004572.4:c.1171-13G>A	NP_004563.2:n.1171-13G>A