Canonical Allele Identifier: CA384359316

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955363C>G (hg19) ; chr12:g.32802429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802429C>G , CM000674.2:g.32802429C>G	GRCh38
NC_000012.11:g.32955363C>G , CM000674.1:g.32955363C>G	GRCh37
NC_000012.10:g.32846630C>G	NCBI36
NG_009000.1:g.99418G>C , LRG_398:g.99418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.644G>C
ENST00000700557.2:n.233G>C
ENST00000700559.2:c.2141G>C	ENSP00000515065.2:p.Arg714Pro
ENST00000546498.2:n.828G>C
ENST00000549461.2:n.659+21G>C
ENST00000700555.1:c.572G>C	ENSP00000515062.1:p.Arg191Pro
ENST00000700556.1:c.612G>C
ENST00000700557.1:c.152G>C	ENSP00000515064.1:p.Arg51Pro
ENST00000700558.1:n.355G>C
ENST00000700559.1:c.1356G>C
ENST00000700560.1:n.1356G>C
ENST00000700561.1:n.1482G>C
ENST00000070846.11:c.2273G>C	ENSP00000070846.6:p.Arg758Pro
ENST00000340811.9:c.2141G>C MANE Select	ENSP00000342800.5:p.Arg714Pro
ENST00000070846.10:c.2273G>C	ENSP00000070846.6:p.Arg758Pro
ENST00000340811.8:c.2141G>C	ENSP00000342800.4:p.Arg714Pro
ENST00000613243.1:c.2273G>C	ENSP00000478295.1:p.Arg758Pro
NM_001005242.2:c.2141G>C	NP_001005242.2:p.Arg714Pro
NM_004572.3:c.2273G>C , LRG_398t1:c.2273G>C	NP_004563.2:p.Arg758Pro
NM_001005242.3:c.2141G>C MANE Select	NP_001005242.2:p.Arg714Pro
NM_004572.4:c.2273G>C	NP_004563.2:p.Arg758Pro