Canonical Allele Identifier: CA2575118580

Gene: PKP2

Linked Data

• gnomAD v4: 12-32850734-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850734_32850735insC , CM000674.2:g.32850734_32850735insC	GRCh38
NC_000012.11:g.33003668_33003669insC , CM000674.1:g.33003668_33003669insC	GRCh37
NC_000012.10:g.32894935_32894936insC	NCBI36
NG_009000.1:g.51112_51113insG , LRG_398:g.51112_51113insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+31_1378+32insG	ENSP00000515065.2:n.1378+31_1378+32insG
ENST00000700563.2:c.1378+31_1378+32insG	ENSP00000515066.2:n.1378+31_1378+32insG
ENST00000700559.1:c.593+31_593+32insG
ENST00000700560.1:n.593+31_593+32insG
ENST00000700561.1:n.719+31_719+32insG
ENST00000700563.1:c.1332+31_1332+32insG
ENST00000700564.1:n.1382+31_1382+32insG
ENST00000700565.1:n.1231+31_1231+32insG
ENST00000070846.11:c.1378+31_1378+32insG	ENSP00000070846.6:n.1378+31_1378+32insG
ENST00000340811.9:c.1378+31_1378+32insG MANE Select	ENSP00000342800.5:n.1378+31_1378+32insG
ENST00000070846.10:c.1378+31_1378+32insG	ENSP00000070846.6:n.1378+31_1378+32insG
ENST00000340811.8:c.1378+31_1378+32insG	ENSP00000342800.4:n.1378+31_1378+32insG
ENST00000613243.1:c.1378+31_1378+32insG	ENSP00000478295.1:n.1378+31_1378+32insG
NM_001005242.2:c.1378+31_1378+32insG	NP_001005242.2:n.1378+31_1378+32insG
NM_004572.3:c.1378+31_1378+32insG , LRG_398t1:c.1378+31_1378+32insG	NP_004563.2:n.1378+31_1378+32insG
NM_001005242.3:c.1378+31_1378+32insG MANE Select	NP_001005242.2:n.1378+31_1378+32insG
NM_004572.4:c.1378+31_1378+32insG	NP_004563.2:n.1378+31_1378+32insG