Canonical Allele Identifier: CA10641996

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791492G>T , CM000674.2:g.32791492G>T	GRCh38
NC_000012.11:g.32944426G>T , CM000674.1:g.32944426G>T	GRCh37
NC_000012.10:g.32835693G>T	NCBI36
NG_009000.1:g.110355C>A , LRG_398:g.110355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1949C>A
ENST00000700557.2:n.1538C>A
ENST00000700559.2:c.*787C>A	ENSP00000515065.2:n.*787C>A
ENST00000549461.2:n.1938C>A
ENST00000700555.1:c.*932C>A	ENSP00000515062.1:n.*932C>A
ENST00000700556.1:c.1917C>A
ENST00000700557.1:c.*932C>A	ENSP00000515064.1:n.*932C>A
ENST00000070846.11:c.*932C>A	ENSP00000070846.6:n.*932C>A
ENST00000340811.9:c.*932C>A MANE Select	ENSP00000342800.5:n.*932C>A
ENST00000070846.10:c.*932C>A	ENSP00000070846.6:n.*932C>A
ENST00000340811.8:c.*932C>A	ENSP00000342800.4:n.*932C>A
NM_001005242.2:c.*932C>A	NP_001005242.2:n.*932C>A
NM_004572.3:c.*932C>A , LRG_398t1:c.*932C>A	NP_004563.2:n.*932C>A
NM_001005242.3:c.*932C>A MANE Select	NP_001005242.2:n.*932C>A
NM_004572.4:c.*932C>A	NP_004563.2:n.*932C>A