Canonical Allele Identifier: CA384357594

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949077T>G (hg19) ; chr12:g.32796143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796143T>G , CM000674.2:g.32796143T>G	GRCh38
NC_000012.11:g.32949077T>G , CM000674.1:g.32949077T>G	GRCh37
NC_000012.10:g.32840344T>G	NCBI36
NG_009000.1:g.105704A>C , LRG_398:g.105704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.826A>C
ENST00000700557.2:n.415A>C
ENST00000700559.2:c.2168-3412A>C	ENSP00000515065.2:n.2168-3412A>C
ENST00000546498.2:n.1010A>C
ENST00000549461.2:n.815A>C
ENST00000700555.1:c.754A>C	ENSP00000515062.1:p.Ile252Leu
ENST00000700556.1:c.794A>C
ENST00000700557.1:c.334A>C	ENSP00000515064.1:p.Ile112Leu
ENST00000700558.1:n.537A>C
ENST00000700559.1:c.1383-3412A>C
ENST00000700560.1:n.1538A>C
ENST00000700561.1:n.1664A>C
ENST00000070846.11:c.2455A>C	ENSP00000070846.6:p.Ile819Leu
ENST00000340811.9:c.2323A>C MANE Select	ENSP00000342800.5:p.Ile775Leu
ENST00000070846.10:c.2455A>C	ENSP00000070846.6:p.Ile819Leu
ENST00000340811.8:c.2323A>C	ENSP00000342800.4:p.Ile775Leu
ENST00000613243.1:c.2453A>C	ENSP00000478295.1:p.His818Pro
NM_001005242.2:c.2323A>C	NP_001005242.2:p.Ile775Leu
NM_004572.3:c.2455A>C , LRG_398t1:c.2455A>C	NP_004563.2:p.Ile819Leu
NM_001005242.3:c.2323A>C MANE Select	NP_001005242.2:p.Ile775Leu
NM_004572.4:c.2455A>C	NP_004563.2:p.Ile819Leu