Canonical Allele Identifier: CA384359536

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955393G>C (hg19) ; chr12:g.32802459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802459G>C , CM000674.2:g.32802459G>C	GRCh38
NC_000012.11:g.32955393G>C , CM000674.1:g.32955393G>C	GRCh37
NC_000012.10:g.32846660G>C	NCBI36
NG_009000.1:g.99388C>G , LRG_398:g.99388C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.614C>G
ENST00000700557.2:n.203C>G
ENST00000700559.2:c.2111C>G	ENSP00000515065.2:p.Thr704Arg
ENST00000546498.2:n.798C>G
ENST00000549461.2:n.650C>G
ENST00000700555.1:c.542C>G	ENSP00000515062.1:p.Thr181Arg
ENST00000700556.1:c.582C>G
ENST00000700557.1:c.122C>G	ENSP00000515064.1:p.Thr41Arg
ENST00000700558.1:n.325C>G
ENST00000700559.1:c.1326C>G
ENST00000700560.1:n.1326C>G
ENST00000700561.1:n.1452C>G
ENST00000070846.11:c.2243C>G	ENSP00000070846.6:p.Thr748Arg
ENST00000340811.9:c.2111C>G MANE Select	ENSP00000342800.5:p.Thr704Arg
ENST00000070846.10:c.2243C>G	ENSP00000070846.6:p.Thr748Arg
ENST00000340811.8:c.2111C>G	ENSP00000342800.4:p.Thr704Arg
ENST00000549461.1:n.557C>G
ENST00000613243.1:c.2243C>G	ENSP00000478295.1:p.Thr748Arg
NM_001005242.2:c.2111C>G	NP_001005242.2:p.Thr704Arg
NM_004572.3:c.2243C>G , LRG_398t1:c.2243C>G	NP_004563.2:p.Thr748Arg
NM_001005242.3:c.2111C>G MANE Select	NP_001005242.2:p.Thr704Arg
NM_004572.4:c.2243C>G	NP_004563.2:p.Thr748Arg