Canonical Allele Identifier: CA384360056

Gene: PKP2

Linked Data

• ClinVar Variation Id: 923143
• ClinVar RCV Id: RCV001183626
• dbSNP Id: rs1359431679
• gnomAD v4: 12-32802540-G-C
• MyVariant Identifiers: chr12:g.32955474G>C (hg19) ; chr12:g.32802540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802540G>C , CM000674.2:g.32802540G>C	GRCh38
NC_000012.11:g.32955474G>C , CM000674.1:g.32955474G>C	GRCh37
NC_000012.10:g.32846741G>C	NCBI36
NG_009000.1:g.99307C>G , LRG_398:g.99307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.533C>G
ENST00000700557.2:n.122C>G
ENST00000700559.2:c.2030C>G	ENSP00000515065.2:p.Ala677Gly
ENST00000546498.2:n.717C>G
ENST00000549461.2:n.569C>G
ENST00000700555.1:c.461C>G	ENSP00000515062.1:p.Ala154Gly
ENST00000700556.1:c.501C>G
ENST00000700557.1:c.41C>G	ENSP00000515064.1:p.Ala14Gly
ENST00000700558.1:n.244C>G
ENST00000700559.1:c.1245C>G
ENST00000700560.1:n.1245C>G
ENST00000700561.1:n.1371C>G
ENST00000070846.11:c.2162C>G	ENSP00000070846.6:p.Ala721Gly
ENST00000340811.9:c.2030C>G MANE Select	ENSP00000342800.5:p.Ala677Gly
ENST00000070846.10:c.2162C>G	ENSP00000070846.6:p.Ala721Gly
ENST00000340811.8:c.2030C>G	ENSP00000342800.4:p.Ala677Gly
ENST00000549461.1:n.476C>G
ENST00000613243.1:c.2162C>G	ENSP00000478295.1:p.Ala721Gly
NM_001005242.2:c.2030C>G	NP_001005242.2:p.Ala677Gly
NM_004572.3:c.2162C>G , LRG_398t1:c.2162C>G	NP_004563.2:p.Ala721Gly
NM_001005242.3:c.2030C>G MANE Select	NP_001005242.2:p.Ala677Gly
NM_004572.4:c.2162C>G	NP_004563.2:p.Ala721Gly