Canonical Allele Identifier: CA2618223153

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802648-GTTTTATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802652_32802658del , CM000674.2:g.32802652_32802658del	GRCh38
NC_000012.11:g.32955586_32955592del , CM000674.1:g.32955586_32955592del	GRCh37
NC_000012.10:g.32846853_32846859del	NCBI36
NG_009000.1:g.99192_99198del , LRG_398:g.99192_99198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-99_517-93del
ENST00000700557.2:n.106-99_106-93del
ENST00000700559.2:c.2014-99_2014-93del	ENSP00000515065.2:n.2014-99_2014-93del
ENST00000546498.2:n.701-99_701-93del
ENST00000549461.2:n.553-99_553-93del
ENST00000700555.1:c.445-99_445-93del	ENSP00000515062.1:n.445-99_445-93del
ENST00000700556.1:c.485-99_485-93del
ENST00000700557.1:c.25-99_25-93del	ENSP00000515064.1:n.25-99_25-93del
ENST00000700558.1:n.228-99_228-93del
ENST00000700559.1:c.1229-99_1229-93del
ENST00000700560.1:n.1229-99_1229-93del
ENST00000700561.1:n.1355-99_1355-93del
ENST00000070846.11:c.2146-99_2146-93del	ENSP00000070846.6:n.2146-99_2146-93del
ENST00000340811.9:c.2014-99_2014-93del MANE Select	ENSP00000342800.5:n.2014-99_2014-93del
ENST00000070846.10:c.2146-99_2146-93del	ENSP00000070846.6:n.2146-99_2146-93del
ENST00000340811.8:c.2014-99_2014-93del	ENSP00000342800.4:n.2014-99_2014-93del
ENST00000549461.1:n.460-99_460-93del
ENST00000613243.1:c.2146-99_2146-93del	ENSP00000478295.1:n.2146-99_2146-93del
NM_001005242.2:c.2014-99_2014-93del	NP_001005242.2:n.2014-99_2014-93del
NM_004572.3:c.2146-99_2146-93del , LRG_398t1:c.2146-99_2146-93del	NP_004563.2:n.2146-99_2146-93del
NM_001005242.3:c.2014-99_2014-93del MANE Select	NP_001005242.2:n.2014-99_2014-93del
NM_004572.4:c.2146-99_2146-93del	NP_004563.2:n.2146-99_2146-93del