Canonical Allele Identifier: CA384357591

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949076A>G (hg19) ; chr12:g.32796142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796142A>G , CM000674.2:g.32796142A>G	GRCh38
NC_000012.11:g.32949076A>G , CM000674.1:g.32949076A>G	GRCh37
NC_000012.10:g.32840343A>G	NCBI36
NG_009000.1:g.105705T>C , LRG_398:g.105705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.827T>C
ENST00000700557.2:n.416T>C
ENST00000700559.2:c.2168-3411T>C	ENSP00000515065.2:n.2168-3411T>C
ENST00000546498.2:n.1011T>C
ENST00000549461.2:n.816T>C
ENST00000700555.1:c.755T>C	ENSP00000515062.1:p.Ile252Thr
ENST00000700556.1:c.795T>C
ENST00000700557.1:c.335T>C	ENSP00000515064.1:p.Ile112Thr
ENST00000700558.1:n.538T>C
ENST00000700559.1:c.1383-3411T>C
ENST00000700560.1:n.1539T>C
ENST00000700561.1:n.1665T>C
ENST00000070846.11:c.2456T>C	ENSP00000070846.6:p.Ile819Thr
ENST00000340811.9:c.2324T>C MANE Select	ENSP00000342800.5:p.Ile775Thr
ENST00000070846.10:c.2456T>C	ENSP00000070846.6:p.Ile819Thr
ENST00000340811.8:c.2324T>C	ENSP00000342800.4:p.Ile775Thr
ENST00000613243.1:c.2454T>C	ENSP00000478295.1:p.His818=
NM_001005242.2:c.2324T>C	NP_001005242.2:p.Ile775Thr
NM_004572.3:c.2456T>C , LRG_398t1:c.2456T>C	NP_004563.2:p.Ile819Thr
NM_001005242.3:c.2324T>C MANE Select	NP_001005242.2:p.Ile775Thr
NM_004572.4:c.2456T>C	NP_004563.2:p.Ile819Thr