Canonical Allele Identifier: CA384364554

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32976998T>G (hg19) ; chr12:g.32824064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824064T>G , CM000674.2:g.32824064T>G	GRCh38
NC_000012.11:g.32976998T>G , CM000674.1:g.32976998T>G	GRCh37
NC_000012.10:g.32868265T>G	NCBI36
NG_009000.1:g.77783A>C , LRG_398:g.77783A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.167A>C
ENST00000700559.2:c.1655A>C	ENSP00000515065.2:p.Asp552Ala
ENST00000700563.2:c.1655A>C	ENSP00000515066.2:p.Asp552Ala
ENST00000546498.2:n.342A>C
ENST00000700555.1:c.95A>C	ENSP00000515062.1:p.Asp32Ala
ENST00000700556.1:c.126A>C
ENST00000700559.1:c.870A>C
ENST00000700560.1:n.870A>C
ENST00000700561.1:n.996A>C
ENST00000700563.1:c.1609A>C
ENST00000700564.1:n.1659A>C
ENST00000070846.11:c.1787A>C	ENSP00000070846.6:p.Asp596Ala
ENST00000340811.9:c.1655A>C MANE Select	ENSP00000342800.5:p.Asp552Ala
ENST00000070846.10:c.1787A>C	ENSP00000070846.6:p.Asp596Ala
ENST00000340811.8:c.1655A>C	ENSP00000342800.4:p.Asp552Ala
ENST00000546498.1:n.342A>C
ENST00000552612.5:n.76A>C
ENST00000613243.1:c.1787A>C	ENSP00000478295.1:p.Asp596Ala
NM_001005242.2:c.1655A>C	NP_001005242.2:p.Asp552Ala
NM_004572.3:c.1787A>C , LRG_398t1:c.1787A>C	NP_004563.2:p.Asp596Ala
NM_001005242.3:c.1655A>C MANE Select	NP_001005242.2:p.Asp552Ala
NM_004572.4:c.1787A>C	NP_004563.2:p.Asp596Ala