Canonical Allele Identifier: CA010901
Gene: PKP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32850933dup , CM000674.2:g.32850933dup GRCh38
NC_000012.11:g.33003867dup , CM000674.1:g.33003867dup GRCh37
NC_000012.10:g.32895134dup NCBI36
NG_009000.1:g.50914dup , LRG_398:g.50914dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1211dup ENSP00000515065.2:p.Val406SerfsTer4
ENST00000700563.2:c.1211dup ENSP00000515066.2:p.Val406SerfsTer4
ENST00000700559.1:c.426dup
ENST00000700560.1:n.426dup
ENST00000700561.1:n.552dup
ENST00000700563.1:c.1165dup
ENST00000700564.1:n.1215dup
ENST00000700565.1:n.1064dup
ENST00000070846.11:c.1211dup ENSP00000070846.6:p.Val406SerfsTer4
ENST00000340811.9:c.1211dup MANE Select ENSP00000342800.5:p.Val406SerfsTer4
ENST00000070846.10:c.1211dup ENSP00000070846.6:p.Val406SerfsTer4
ENST00000340811.8:c.1211dup ENSP00000342800.4:p.Val406SerfsTer4
ENST00000613243.1:c.1211dup ENSP00000478295.1:p.Val406SerfsTer4
NM_001005242.2:c.1211dup NP_001005242.2:p.Val406SerfsTer4
NM_004572.3:c.1211dup , LRG_398t1:c.1211dup NP_004563.2:p.Val406SerfsTer4
NM_001005242.3:c.1211dup MANE Select NP_001005242.2:p.Val406SerfsTer4
NM_004572.4:c.1211dup NP_004563.2:p.Val406SerfsTer4
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