Canonical Allele Identifier: CA384359912

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955438T>G (hg19) ; chr12:g.32802504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802504T>G , CM000674.2:g.32802504T>G	GRCh38
NC_000012.11:g.32955438T>G , CM000674.1:g.32955438T>G	GRCh37
NC_000012.10:g.32846705T>G	NCBI36
NG_009000.1:g.99343A>C , LRG_398:g.99343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.569A>C
ENST00000700557.2:n.158A>C
ENST00000700559.2:c.2066A>C	ENSP00000515065.2:p.His689Pro
ENST00000546498.2:n.753A>C
ENST00000549461.2:n.605A>C
ENST00000700555.1:c.497A>C	ENSP00000515062.1:p.His166Pro
ENST00000700556.1:c.537A>C
ENST00000700557.1:c.77A>C	ENSP00000515064.1:p.His26Pro
ENST00000700558.1:n.280A>C
ENST00000700559.1:c.1281A>C
ENST00000700560.1:n.1281A>C
ENST00000700561.1:n.1407A>C
ENST00000070846.11:c.2198A>C	ENSP00000070846.6:p.His733Pro
ENST00000340811.9:c.2066A>C MANE Select	ENSP00000342800.5:p.His689Pro
ENST00000070846.10:c.2198A>C	ENSP00000070846.6:p.His733Pro
ENST00000340811.8:c.2066A>C	ENSP00000342800.4:p.His689Pro
ENST00000549461.1:n.512A>C
ENST00000613243.1:c.2198A>C	ENSP00000478295.1:p.His733Pro
NM_001005242.2:c.2066A>C	NP_001005242.2:p.His689Pro
NM_004572.3:c.2198A>C , LRG_398t1:c.2198A>C	NP_004563.2:p.His733Pro
NM_001005242.3:c.2066A>C MANE Select	NP_001005242.2:p.His689Pro
NM_004572.4:c.2198A>C	NP_004563.2:p.His733Pro