Canonical Allele Identifier: CA604225830

Gene: PKP2

Linked Data

• dbSNP Id: rs1565581085
• gnomAD v2: 12-32975608-A-ATACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGG
• gnomAD v4: 12-32822674-A-ATACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGG
• MyVariant Identifiers: chr12:g.32975608_32975609insTACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822675_32822676insACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGGT , CM000674.2:g.32822675_32822676insACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGGT	GRCh38
NC_000012.11:g.32975609_32975610insACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGGT , CM000674.1:g.32975609_32975610insACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGGT	GRCh37
NC_000012.10:g.32866876_32866877insACTCGGCAAATCTTACCCCGCCTGTTTACCAAAAACATCACCTCTAGCATCACCAGTATTAGAGGT	NCBI36
NG_009000.1:g.79172_79173insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA , LRG_398:g.79172_79173insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-44_187-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700559.2:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000515065.2:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000700563.2:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000515066.2:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000546498.2:n.362-44_362-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700555.1:c.115-44_115-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000515062.1:n.115-44_115-43insCCTCTAATACTGGTGATGCTAGAGG...
ENST00000700556.1:c.146-44_146-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700559.1:c.890-44_890-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700560.1:n.890-44_890-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700561.1:n.1016-44_1016-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700563.1:c.1629-44_1629-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000700564.1:n.1679-44_1679-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000070846.11:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000070846.6:n.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000340811.9:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA MANE Select	ENSP00000342800.5:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000070846.10:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000070846.6:n.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000340811.8:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000342800.4:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGA...
ENST00000546498.1:n.362-44_362-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000552612.5:n.96-44_96-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA
ENST00000613243.1:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	ENSP00000478295.1:n.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGA...
NM_001005242.2:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	NP_001005242.2:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGT...
NM_004572.3:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA , LRG_398t1:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	NP_004563.2:n.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGAT...
NM_001005242.3:c.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA MANE Select	NP_001005242.2:n.1675-44_1675-43insCCTCTAATACTGGTGATGCTAGAGGT...
NM_004572.4:c.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGATGTTTTTGGTAAACAGGCGGGGTAAGATTTGCCGAGTA	NP_004563.2:n.1807-44_1807-43insCCTCTAATACTGGTGATGCTAGAGGTGAT...