Canonical Allele Identifier: CA384362454

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821530C>G , CM000674.2:g.32821530C>G	GRCh38
NC_000012.11:g.32974464C>G , CM000674.1:g.32974464C>G	GRCh37
NC_000012.10:g.32865731C>G	NCBI36
NG_009000.1:g.80317G>C , LRG_398:g.80317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.343-1G>C
ENST00000700559.2:c.1840-1G>C	ENSP00000515065.2:n.1840-1G>C
ENST00000700563.2:c.1840-1G>C	ENSP00000515066.2:n.1840-1G>C
ENST00000546498.2:n.527-1G>C
ENST00000549461.2:n.378G>C
ENST00000700555.1:c.271-1G>C	ENSP00000515062.1:n.271-1G>C
ENST00000700556.1:c.311-1G>C
ENST00000700558.1:n.54-1G>C
ENST00000700559.1:c.1055-1G>C
ENST00000700560.1:n.1055-1G>C
ENST00000700561.1:n.1181-1G>C
ENST00000700562.1:n.377G>C
ENST00000700563.1:c.1794-1G>C
ENST00000700564.1:n.1844-1G>C
ENST00000070846.11:c.1972-1G>C	ENSP00000070846.6:n.1972-1G>C
ENST00000340811.9:c.1840-1G>C MANE Select	ENSP00000342800.5:n.1840-1G>C
ENST00000070846.10:c.1972-1G>C	ENSP00000070846.6:n.1972-1G>C
ENST00000340811.8:c.1840-1G>C	ENSP00000342800.4:n.1840-1G>C
ENST00000546498.1:n.527-1G>C
ENST00000549461.1:n.285G>C
ENST00000552612.5:n.261-1G>C
ENST00000613243.1:c.1972-1G>C	ENSP00000478295.1:n.1972-1G>C
NM_001005242.2:c.1840-1G>C	NP_001005242.2:n.1840-1G>C
NM_004572.3:c.1972-1G>C , LRG_398t1:c.1972-1G>C	NP_004563.2:n.1972-1G>C
NM_001005242.3:c.1840-1G>C MANE Select	NP_001005242.2:n.1840-1G>C
NM_004572.4:c.1972-1G>C	NP_004563.2:n.1972-1G>C