Canonical Allele Identifier: CA032586

Gene: PKP2

Linked Data

• ClinVar Variation Id: 919450
• ClinVar RCV Id: RCV001177657 ; RCV001241007 ; RCV002223273 ; RCV002418611
• dbSNP Id: rs375295635
• ExAC: 12:32974358 T / C
• gnomAD v2: 12-32974358-T-C
• gnomAD v3: 12-32821424-T-C
• gnomAD v4: 12-32821424-T-C
• MyVariant Identifiers: chr12:g.32974358T>C (hg19) ; chr12:g.32821424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821424T>C , CM000674.2:g.32821424T>C	GRCh38
NC_000012.11:g.32974358T>C , CM000674.1:g.32974358T>C	GRCh37
NC_000012.10:g.32865625T>C	NCBI36
NG_009000.1:g.80423A>G , LRG_398:g.80423A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.448A>G
ENST00000700559.2:c.1945A>G	ENSP00000515065.2:p.Ser649Gly
ENST00000700563.2:c.1945A>G	ENSP00000515066.2:p.Ser649Gly
ENST00000546498.2:n.632A>G
ENST00000549461.2:n.484A>G
ENST00000700555.1:c.376A>G	ENSP00000515062.1:p.Ser126Gly
ENST00000700556.1:c.416A>G
ENST00000700558.1:n.159A>G
ENST00000700559.1:c.1160A>G
ENST00000700560.1:n.1160A>G
ENST00000700561.1:n.1286A>G
ENST00000700562.1:n.483A>G
ENST00000700563.1:c.1899A>G
ENST00000700564.1:n.1949A>G
ENST00000070846.11:c.2077A>G	ENSP00000070846.6:p.Ser693Gly
ENST00000340811.9:c.1945A>G MANE Select	ENSP00000342800.5:p.Ser649Gly
ENST00000070846.10:c.2077A>G	ENSP00000070846.6:p.Ser693Gly
ENST00000340811.8:c.1945A>G	ENSP00000342800.4:p.Ser649Gly
ENST00000549461.1:n.391A>G
ENST00000552612.5:n.366A>G
ENST00000613243.1:c.2077A>G	ENSP00000478295.1:p.Ser693Gly
NM_001005242.2:c.1945A>G	NP_001005242.2:p.Ser649Gly
NM_004572.3:c.2077A>G , LRG_398t1:c.2077A>G	NP_004563.2:p.Ser693Gly
NM_001005242.3:c.1945A>G MANE Select	NP_001005242.2:p.Ser649Gly
NM_004572.4:c.2077A>G	NP_004563.2:p.Ser693Gly