Canonical Allele Identifier: CA032345

Gene: PKP2

Linked Data

• dbSNP Id: rs138495471
• ExAC: 12:32974395 G / T
• MyVariant Identifiers: chr12:g.32974395G>T (hg19) ; chr12:g.32821461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821461G>T , CM000674.2:g.32821461G>T	GRCh38
NC_000012.11:g.32974395G>T , CM000674.1:g.32974395G>T	GRCh37
NC_000012.10:g.32865662G>T	NCBI36
NG_009000.1:g.80386C>A , LRG_398:g.80386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.411C>A
ENST00000700559.2:c.1908C>A	ENSP00000515065.2:p.Ser636=
ENST00000700563.2:c.1908C>A	ENSP00000515066.2:p.Ser636=
ENST00000546498.2:n.595C>A
ENST00000549461.2:n.447C>A
ENST00000700555.1:c.339C>A	ENSP00000515062.1:p.Ser113=
ENST00000700556.1:c.379C>A
ENST00000700558.1:n.122C>A
ENST00000700559.1:c.1123C>A
ENST00000700560.1:n.1123C>A
ENST00000700561.1:n.1249C>A
ENST00000700562.1:n.446C>A
ENST00000700563.1:c.1862C>A
ENST00000700564.1:n.1912C>A
ENST00000070846.11:c.2040C>A	ENSP00000070846.6:p.Ser680=
ENST00000340811.9:c.1908C>A MANE Select	ENSP00000342800.5:p.Ser636=
ENST00000070846.10:c.2040C>A	ENSP00000070846.6:p.Ser680=
ENST00000340811.8:c.1908C>A	ENSP00000342800.4:p.Ser636=
ENST00000549461.1:n.354C>A
ENST00000552612.5:n.329C>A
ENST00000613243.1:c.2040C>A	ENSP00000478295.1:p.Ser680=
NM_001005242.2:c.1908C>A	NP_001005242.2:p.Ser636=
NM_004572.3:c.2040C>A , LRG_398t1:c.2040C>A	NP_004563.2:p.Ser680=
NM_001005242.3:c.1908C>A MANE Select	NP_001005242.2:p.Ser636=
NM_004572.4:c.2040C>A	NP_004563.2:p.Ser680=