Canonical Allele Identifier: CA384357497

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949050C>G (hg19) ; chr12:g.32796116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796116C>G , CM000674.2:g.32796116C>G	GRCh38
NC_000012.11:g.32949050C>G , CM000674.1:g.32949050C>G	GRCh37
NC_000012.10:g.32840317C>G	NCBI36
NG_009000.1:g.105731G>C , LRG_398:g.105731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.853G>C
ENST00000700557.2:n.442G>C
ENST00000700559.2:c.2168-3385G>C	ENSP00000515065.2:n.2168-3385G>C
ENST00000546498.2:n.1037G>C
ENST00000549461.2:n.842G>C
ENST00000700555.1:c.781G>C	ENSP00000515062.1:p.Gly261Arg
ENST00000700556.1:c.821G>C
ENST00000700557.1:c.361G>C	ENSP00000515064.1:p.Gly121Arg
ENST00000700558.1:n.564G>C
ENST00000700559.1:c.1383-3385G>C
ENST00000700560.1:n.1565G>C
ENST00000700561.1:n.1691G>C
ENST00000070846.11:c.2482G>C	ENSP00000070846.6:p.Gly828Arg
ENST00000340811.9:c.2350G>C MANE Select	ENSP00000342800.5:p.Gly784Arg
ENST00000070846.10:c.2482G>C	ENSP00000070846.6:p.Gly828Arg
ENST00000340811.8:c.2350G>C	ENSP00000342800.4:p.Gly784Arg
ENST00000613243.1:c.2480G>C	ENSP00000478295.1:n.2480G>C
NM_001005242.2:c.2350G>C	NP_001005242.2:p.Gly784Arg
NM_004572.3:c.2482G>C , LRG_398t1:c.2482G>C	NP_004563.2:p.Gly828Arg
NM_001005242.3:c.2350G>C MANE Select	NP_001005242.2:p.Gly784Arg
NM_004572.4:c.2482G>C	NP_004563.2:p.Gly828Arg