Canonical Allele Identifier: CA235222997

Gene: PKP2

Linked Data

• dbSNP Id: rs993138747
• gnomAD v2: 12-32955595-CTTAT-C
• gnomAD v3: 12-32802661-CTTAT-C
• gnomAD v4: 12-32802661-CTTAT-C
• MyVariant Identifiers: chr12:g.32955596_32955599del (hg19) ; chr12:g.32802662_32802665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802672_32802675del , CM000674.2:g.32802672_32802675del	GRCh38
NC_000012.11:g.32955606_32955609del , CM000674.1:g.32955606_32955609del	GRCh37
NC_000012.10:g.32846873_32846876del	NCBI36
NG_009000.1:g.99182_99185del , LRG_398:g.99182_99185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-109_517-106del
ENST00000700557.2:n.106-109_106-106del
ENST00000700559.2:c.2014-109_2014-106del	ENSP00000515065.2:n.2014-109_2014-106del
ENST00000546498.2:n.701-109_701-106del
ENST00000549461.2:n.553-109_553-106del
ENST00000700555.1:c.445-109_445-106del	ENSP00000515062.1:n.445-109_445-106del
ENST00000700556.1:c.485-109_485-106del
ENST00000700557.1:c.25-109_25-106del	ENSP00000515064.1:n.25-109_25-106del
ENST00000700558.1:n.228-109_228-106del
ENST00000700559.1:c.1229-109_1229-106del
ENST00000700560.1:n.1229-109_1229-106del
ENST00000700561.1:n.1355-109_1355-106del
ENST00000070846.11:c.2146-109_2146-106del	ENSP00000070846.6:n.2146-109_2146-106del
ENST00000340811.9:c.2014-109_2014-106del MANE Select	ENSP00000342800.5:n.2014-109_2014-106del
ENST00000070846.10:c.2146-109_2146-106del	ENSP00000070846.6:n.2146-109_2146-106del
ENST00000340811.8:c.2014-109_2014-106del	ENSP00000342800.4:n.2014-109_2014-106del
ENST00000549461.1:n.460-109_460-106del
ENST00000613243.1:c.2146-109_2146-106del	ENSP00000478295.1:n.2146-109_2146-106del
NM_001005242.2:c.2014-109_2014-106del	NP_001005242.2:n.2014-109_2014-106del
NM_004572.3:c.2146-109_2146-106del , LRG_398t1:c.2146-109_2146-106del	NP_004563.2:n.2146-109_2146-106del
NM_001005242.3:c.2014-109_2014-106del MANE Select	NP_001005242.2:n.2014-109_2014-106del
NM_004572.4:c.2146-109_2146-106del	NP_004563.2:n.2146-109_2146-106del