Canonical Allele Identifier: CA384363477

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975535T>C (hg19) ; chr12:g.32822601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822601T>C , CM000674.2:g.32822601T>C	GRCh38
NC_000012.11:g.32975535T>C , CM000674.1:g.32975535T>C	GRCh37
NC_000012.10:g.32866802T>C	NCBI36
NG_009000.1:g.79246A>G , LRG_398:g.79246A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.217A>G
ENST00000700559.2:c.1705A>G	ENSP00000515065.2:p.Asn569Asp
ENST00000700563.2:c.1705A>G	ENSP00000515066.2:p.Asn569Asp
ENST00000546498.2:n.392A>G
ENST00000700555.1:c.145A>G	ENSP00000515062.1:p.Asn49Asp
ENST00000700556.1:c.176A>G
ENST00000700559.1:c.920A>G
ENST00000700560.1:n.920A>G
ENST00000700561.1:n.1046A>G
ENST00000700563.1:c.1659A>G
ENST00000700564.1:n.1709A>G
ENST00000070846.11:c.1837A>G	ENSP00000070846.6:p.Asn613Asp
ENST00000340811.9:c.1705A>G MANE Select	ENSP00000342800.5:p.Asn569Asp
ENST00000070846.10:c.1837A>G	ENSP00000070846.6:p.Asn613Asp
ENST00000340811.8:c.1705A>G	ENSP00000342800.4:p.Asn569Asp
ENST00000546498.1:n.392A>G
ENST00000552612.5:n.126A>G
ENST00000613243.1:c.1837A>G	ENSP00000478295.1:p.Asn613Asp
NM_001005242.2:c.1705A>G	NP_001005242.2:p.Asn569Asp
NM_004572.3:c.1837A>G , LRG_398t1:c.1837A>G	NP_004563.2:p.Asn613Asp
NM_001005242.3:c.1705A>G MANE Select	NP_001005242.2:p.Asn569Asp
NM_004572.4:c.1837A>G	NP_004563.2:p.Asn613Asp