Canonical Allele Identifier: CA2618226464

Gene: PKP2

Linked Data

• gnomAD v4: 12-32868912-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868912_32868913insT , CM000674.2:g.32868912_32868913insT	GRCh38
NC_000012.11:g.33021846_33021847insT , CM000674.1:g.33021846_33021847insT	GRCh37
NC_000012.10:g.32913113_32913114insT	NCBI36
NG_009000.1:g.32934_32935insA , LRG_398:g.32934_32935insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1170+14_1170+15insA	ENSP00000515065.2:n.1170+14_1170+15insA
ENST00000700563.2:c.1170+14_1170+15insA	ENSP00000515066.2:n.1170+14_1170+15insA
ENST00000700559.1:c.385+14_385+15insA
ENST00000700560.1:n.385+14_385+15insA
ENST00000700561.1:n.511+14_511+15insA
ENST00000700563.1:c.1124+14_1124+15insA
ENST00000700564.1:n.1174+14_1174+15insA
ENST00000700565.1:n.1023+14_1023+15insA
ENST00000070846.11:c.1170+14_1170+15insA	ENSP00000070846.6:n.1170+14_1170+15insA
ENST00000340811.9:c.1170+14_1170+15insA MANE Select	ENSP00000342800.5:n.1170+14_1170+15insA
ENST00000070846.10:c.1170+14_1170+15insA	ENSP00000070846.6:n.1170+14_1170+15insA
ENST00000340811.8:c.1170+14_1170+15insA	ENSP00000342800.4:n.1170+14_1170+15insA
ENST00000613243.1:c.1170+14_1170+15insA	ENSP00000478295.1:n.1170+14_1170+15insA
NM_001005242.2:c.1170+14_1170+15insA	NP_001005242.2:n.1170+14_1170+15insA
NM_004572.3:c.1170+14_1170+15insA , LRG_398t1:c.1170+14_1170+15insA	NP_004563.2:n.1170+14_1170+15insA
NM_001005242.3:c.1170+14_1170+15insA MANE Select	NP_001005242.2:n.1170+14_1170+15insA
NM_004572.4:c.1170+14_1170+15insA	NP_004563.2:n.1170+14_1170+15insA