Canonical Allele Identifier: CA10632626

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791265T>A , CM000674.2:g.32791265T>A	GRCh38
NC_000012.11:g.32944199T>A , CM000674.1:g.32944199T>A	GRCh37
NC_000012.10:g.32835466T>A	NCBI36
NG_009000.1:g.110582A>T , LRG_398:g.110582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.2176A>T
ENST00000700557.2:n.1765A>T
ENST00000700559.2:c.*1014A>T	ENSP00000515065.2:n.*1014A>T
ENST00000549461.2:n.2165A>T
ENST00000700555.1:c.*1159A>T	ENSP00000515062.1:n.*1159A>T
ENST00000700556.1:c.2144A>T
ENST00000700557.1:c.*1159A>T	ENSP00000515064.1:n.*1159A>T
ENST00000070846.11:c.*1159A>T	ENSP00000070846.6:n.*1159A>T
ENST00000340811.9:c.*1159A>T MANE Select	ENSP00000342800.5:n.*1159A>T
ENST00000070846.10:c.*1159A>T	ENSP00000070846.6:n.*1159A>T
ENST00000340811.8:c.*1159A>T	ENSP00000342800.4:n.*1159A>T
NM_001005242.2:c.*1159A>T	NP_001005242.2:n.*1159A>T
NM_004572.3:c.*1159A>T , LRG_398t1:c.*1159A>T	NP_004563.2:n.*1159A>T
NM_001005242.3:c.*1159A>T MANE Select	NP_001005242.2:n.*1159A>T
NM_004572.4:c.*1159A>T	NP_004563.2:n.*1159A>T