Canonical Allele Identifier: CA031319

Gene: PKP2

Linked Data

• dbSNP Id: rs748374852
• ExAC: 12:32975470 G / A
• gnomAD v4: 12-32822536-G-A
• MyVariant Identifiers: chr12:g.32975470G>A (hg19) ; chr12:g.32822536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822536G>A , CM000674.2:g.32822536G>A	GRCh38
NC_000012.11:g.32975470G>A , CM000674.1:g.32975470G>A	GRCh37
NC_000012.10:g.32866737G>A	NCBI36
NG_009000.1:g.79311C>T , LRG_398:g.79311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.282C>T
ENST00000700559.2:c.1770C>T	ENSP00000515065.2:p.Asn590=
ENST00000700563.2:c.1770C>T	ENSP00000515066.2:p.Asn590=
ENST00000546498.2:n.457C>T
ENST00000700555.1:c.210C>T	ENSP00000515062.1:p.Asn70=
ENST00000700556.1:c.241C>T
ENST00000700559.1:c.985C>T
ENST00000700560.1:n.985C>T
ENST00000700561.1:n.1111C>T
ENST00000700563.1:c.1724C>T
ENST00000700564.1:n.1774C>T
ENST00000070846.11:c.1902C>T	ENSP00000070846.6:p.Asn634=
ENST00000340811.9:c.1770C>T MANE Select	ENSP00000342800.5:p.Asn590=
ENST00000070846.10:c.1902C>T	ENSP00000070846.6:p.Asn634=
ENST00000340811.8:c.1770C>T	ENSP00000342800.4:p.Asn590=
ENST00000546498.1:n.457C>T
ENST00000552612.5:n.191C>T
ENST00000613243.1:c.1902C>T	ENSP00000478295.1:p.Asn634=
NM_001005242.2:c.1770C>T	NP_001005242.2:p.Asn590=
NM_004572.3:c.1902C>T , LRG_398t1:c.1902C>T	NP_004563.2:p.Asn634=
NM_001005242.3:c.1770C>T MANE Select	NP_001005242.2:p.Asn590=
NM_004572.4:c.1902C>T	NP_004563.2:p.Asn634=