Canonical Allele Identifier: CA384362684

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822490-T-G
• MyVariant Identifiers: chr12:g.32975424T>G (hg19) ; chr12:g.32822490T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822490T>G , CM000674.2:g.32822490T>G	GRCh38
NC_000012.11:g.32975424T>G , CM000674.1:g.32975424T>G	GRCh37
NC_000012.10:g.32866691T>G	NCBI36
NG_009000.1:g.79357A>C , LRG_398:g.79357A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.328A>C
ENST00000700559.2:c.1816A>C	ENSP00000515065.2:p.Ser606Arg
ENST00000700563.2:c.1816A>C	ENSP00000515066.2:p.Ser606Arg
ENST00000546498.2:n.503A>C
ENST00000700555.1:c.256A>C	ENSP00000515062.1:p.Ser86Arg
ENST00000700556.1:c.287A>C
ENST00000700559.1:c.1031A>C
ENST00000700560.1:n.1031A>C
ENST00000700561.1:n.1157A>C
ENST00000700563.1:c.1770A>C
ENST00000700564.1:n.1820A>C
ENST00000070846.11:c.1948A>C	ENSP00000070846.6:p.Ser650Arg
ENST00000340811.9:c.1816A>C MANE Select	ENSP00000342800.5:p.Ser606Arg
ENST00000070846.10:c.1948A>C	ENSP00000070846.6:p.Ser650Arg
ENST00000340811.8:c.1816A>C	ENSP00000342800.4:p.Ser606Arg
ENST00000546498.1:n.503A>C
ENST00000552612.5:n.237A>C
ENST00000613243.1:c.1948A>C	ENSP00000478295.1:p.Ser650Arg
NM_001005242.2:c.1816A>C	NP_001005242.2:p.Ser606Arg
NM_004572.3:c.1948A>C , LRG_398t1:c.1948A>C	NP_004563.2:p.Ser650Arg
NM_001005242.3:c.1816A>C MANE Select	NP_001005242.2:p.Ser606Arg
NM_004572.4:c.1948A>C	NP_004563.2:p.Ser650Arg