Canonical Allele Identifier: CA035272

Gene: PKP2

Linked Data

• ClinVar Variation Id: 222765
• ClinVar RCV Id: RCV000208302 ; RCV002515551
• dbSNP Id: rs750119363
• ExAC: 12:32949050 C / T
• gnomAD v2: 12-32949050-C-T
• gnomAD v3: 12-32796116-C-T
• gnomAD v4: 12-32796116-C-T
• MyVariant Identifiers: chr12:g.32949050C>T (hg19) ; chr12:g.32796116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796116C>T , CM000674.2:g.32796116C>T	GRCh38
NC_000012.11:g.32949050C>T , CM000674.1:g.32949050C>T	GRCh37
NC_000012.10:g.32840317C>T	NCBI36
NG_009000.1:g.105731G>A , LRG_398:g.105731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.853G>A
ENST00000700557.2:n.442G>A
ENST00000700559.2:c.2168-3385G>A	ENSP00000515065.2:n.2168-3385G>A
ENST00000546498.2:n.1037G>A
ENST00000549461.2:n.842G>A
ENST00000700555.1:c.781G>A	ENSP00000515062.1:p.Gly261Ser
ENST00000700556.1:c.821G>A
ENST00000700557.1:c.361G>A	ENSP00000515064.1:p.Gly121Ser
ENST00000700558.1:n.564G>A
ENST00000700559.1:c.1383-3385G>A
ENST00000700560.1:n.1565G>A
ENST00000700561.1:n.1691G>A
ENST00000070846.11:c.2482G>A	ENSP00000070846.6:p.Gly828Ser
ENST00000340811.9:c.2350G>A MANE Select	ENSP00000342800.5:p.Gly784Ser
ENST00000070846.10:c.2482G>A	ENSP00000070846.6:p.Gly828Ser
ENST00000340811.8:c.2350G>A	ENSP00000342800.4:p.Gly784Ser
ENST00000613243.1:c.2480G>A	ENSP00000478295.1:n.2480G>A
NM_001005242.2:c.2350G>A	NP_001005242.2:p.Gly784Ser
NM_004572.3:c.2482G>A , LRG_398t1:c.2482G>A	NP_004563.2:p.Gly828Ser
NM_001005242.3:c.2350G>A MANE Select	NP_001005242.2:p.Gly784Ser
NM_004572.4:c.2482G>A	NP_004563.2:p.Gly828Ser