Canonical Allele Identifier: CA687430924

Gene: PKP2

Linked Data

• ClinVar Variation Id: 970859
• ClinVar RCV Id: RCV001246512 ; RCV001815030
• dbSNP Id: rs1270283587
• gnomAD v4: 12-32796196-TTGTTCAATG-T
• MyVariant Identifiers: chr12:g.32949131_32949139del (hg19) ; chr12:g.32796197_32796205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796200_32796208del , CM000674.2:g.32796200_32796208del	GRCh38
NC_000012.11:g.32949134_32949142del , CM000674.1:g.32949134_32949142del	GRCh37
NC_000012.10:g.32840401_32840409del	NCBI36
NG_009000.1:g.105642_105650del , LRG_398:g.105642_105650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.764_772del
ENST00000700557.2:n.353_361del
ENST00000700559.2:c.2168-3474_2168-3466del	ENSP00000515065.2:n.2168-3474_2168-3466del
ENST00000546498.2:n.948_956del
ENST00000549461.2:n.753_761del
ENST00000700555.1:c.692_700del	ENSP00000515062.1:p.Thr231_Asn233del
ENST00000700556.1:c.732_740del
ENST00000700557.1:c.272_280del	ENSP00000515064.1:p.Thr91_Asn93del
ENST00000700558.1:n.475_483del
ENST00000700559.1:c.1383-3474_1383-3466del
ENST00000700560.1:n.1476_1484del
ENST00000700561.1:n.1602_1610del
ENST00000070846.11:c.2393_2401del	ENSP00000070846.6:p.Thr798_Asn800del
ENST00000340811.9:c.2261_2269del MANE Select	ENSP00000342800.5:p.Thr754_Asn756del
ENST00000070846.10:c.2393_2401del	ENSP00000070846.6:p.Thr798_Asn800del
ENST00000340811.8:c.2261_2269del	ENSP00000342800.4:p.Thr754_Asn756del
ENST00000613243.1:c.2393_2401del	ENSP00000478295.1:p.Thr798_Asn800del
NM_001005242.2:c.2261_2269del	NP_001005242.2:p.Thr754_Asn756del
NM_004572.3:c.2393_2401del , LRG_398t1:c.2393_2401del	NP_004563.2:p.Thr798_Asn800del
NM_001005242.3:c.2261_2269del MANE Select	NP_001005242.2:p.Thr754_Asn756del
NM_004572.4:c.2393_2401del	NP_004563.2:p.Thr798_Asn800del