Canonical Allele Identifier: CA2695216237

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824049_32824067dup , CM000674.2:g.32824049_32824067dup	GRCh38
NC_000012.11:g.32976983_32977001dup , CM000674.1:g.32976983_32977001dup	GRCh37
NC_000012.10:g.32868250_32868268dup	NCBI36
NG_009000.1:g.77782_77800dup , LRG_398:g.77782_77800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.166_184dup
ENST00000700559.2:c.1654_1672dup	ENSP00000515065.2:p.Lys558ArgfsTer6
ENST00000700563.2:c.1654_1672dup	ENSP00000515066.2:p.Lys558ArgfsTer6
ENST00000546498.2:n.341_359dup
ENST00000700555.1:c.94_112dup	ENSP00000515062.1:p.Lys38ArgfsTer6
ENST00000700556.1:c.125_143dup
ENST00000700559.1:c.869_887dup
ENST00000700560.1:n.869_887dup
ENST00000700561.1:n.995_1013dup
ENST00000700563.1:c.1608_1626dup
ENST00000700564.1:n.1658_1676dup
ENST00000070846.11:c.1786_1804dup	ENSP00000070846.6:p.Lys602ArgfsTer6
ENST00000340811.9:c.1654_1672dup MANE Select	ENSP00000342800.5:p.Lys558ArgfsTer6
ENST00000070846.10:c.1786_1804dup	ENSP00000070846.6:p.Lys602ArgfsTer6
ENST00000340811.8:c.1654_1672dup	ENSP00000342800.4:p.Lys558ArgfsTer6
ENST00000546498.1:n.341_359dup
ENST00000552612.5:n.75_93dup
ENST00000613243.1:c.1786_1804dup	ENSP00000478295.1:p.Lys602ArgfsTer6
NM_001005242.2:c.1654_1672dup	NP_001005242.2:p.Lys558ArgfsTer6
NM_004572.3:c.1786_1804dup , LRG_398t1:c.1786_1804dup	NP_004563.2:p.Lys602ArgfsTer6
NM_001005242.3:c.1654_1672dup MANE Select	NP_001005242.2:p.Lys558ArgfsTer6
NM_004572.4:c.1786_1804dup	NP_004563.2:p.Lys602ArgfsTer6