Canonical Allele Identifier: CA687431493

Gene: PKP2

Linked Data

• dbSNP Id: rs1031371963
• MyVariant Identifiers: chr12:g.32949563G>T (hg19) ; chr12:g.32796629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796629G>T , CM000674.2:g.32796629G>T	GRCh38
NC_000012.11:g.32949563G>T , CM000674.1:g.32949563G>T	GRCh37
NC_000012.10:g.32840830G>T	NCBI36
NG_009000.1:g.105218C>A , LRG_398:g.105218C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-331C>A
ENST00000700557.2:n.260-331C>A
ENST00000700559.2:c.2168-3898C>A	ENSP00000515065.2:n.2168-3898C>A
ENST00000546498.2:n.855-331C>A
ENST00000549461.2:n.660-331C>A
ENST00000700555.1:c.599-331C>A	ENSP00000515062.1:n.599-331C>A
ENST00000700556.1:c.639-331C>A
ENST00000700557.1:c.179-331C>A	ENSP00000515064.1:n.179-331C>A
ENST00000700558.1:n.382-331C>A
ENST00000700559.1:c.1383-3898C>A
ENST00000700560.1:n.1383-331C>A
ENST00000700561.1:n.1509-331C>A
ENST00000070846.11:c.2300-331C>A	ENSP00000070846.6:n.2300-331C>A
ENST00000340811.9:c.2168-331C>A MANE Select	ENSP00000342800.5:n.2168-331C>A
ENST00000070846.10:c.2300-331C>A	ENSP00000070846.6:n.2300-331C>A
ENST00000340811.8:c.2168-331C>A	ENSP00000342800.4:n.2168-331C>A
ENST00000613243.1:c.2300-331C>A	ENSP00000478295.1:n.2300-331C>A
NM_001005242.2:c.2168-331C>A	NP_001005242.2:n.2168-331C>A
NM_004572.3:c.2300-331C>A , LRG_398t1:c.2300-331C>A	NP_004563.2:n.2300-331C>A
NM_001005242.3:c.2168-331C>A MANE Select	NP_001005242.2:n.2168-331C>A
NM_004572.4:c.2300-331C>A	NP_004563.2:n.2300-331C>A