Canonical Allele Identifier: CA235214920

Gene: PKP2

Linked Data

• ClinVar Variation Id: 519408
• ClinVar RCV Id: RCV000619536
• dbSNP Id: rs1046323987
• MyVariant Identifiers: chr12:g.32945387C>A (hg19) ; chr12:g.32792453C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792453C>A , CM000674.2:g.32792453C>A	GRCh38
NC_000012.11:g.32945387C>A , CM000674.1:g.32945387C>A	GRCh37
NC_000012.10:g.32836654C>A	NCBI36
NG_009000.1:g.109394G>T , LRG_398:g.109394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.988G>T
ENST00000700557.2:n.577G>T
ENST00000700559.2:c.2295G>T	ENSP00000515065.2:p.Leu765=
ENST00000546498.2:n.1172G>T
ENST00000549461.2:n.977G>T
ENST00000700555.1:c.916G>T	ENSP00000515062.1:p.Ala306Ser
ENST00000700556.1:c.956G>T
ENST00000700557.1:c.496G>T	ENSP00000515064.1:p.Ala166Ser
ENST00000700558.1:n.699G>T
ENST00000700559.1:c.1510G>T
ENST00000700560.1:n.1851G>T
ENST00000070846.11:c.2617G>T	ENSP00000070846.6:p.Ala873Ser
ENST00000340811.9:c.2485G>T MANE Select	ENSP00000342800.5:p.Ala829Ser
ENST00000070846.10:c.2617G>T	ENSP00000070846.6:p.Ala873Ser
ENST00000340811.8:c.2485G>T	ENSP00000342800.4:p.Ala829Ser
ENST00000546769.1:n.272G>T
ENST00000613243.1:c.2615G>T	ENSP00000478295.1:n.2615G>T
NM_001005242.2:c.2485G>T	NP_001005242.2:p.Ala829Ser
NM_004572.3:c.2617G>T , LRG_398t1:c.2617G>T	NP_004563.2:p.Ala873Ser
NM_001005242.3:c.2485G>T MANE Select	NP_001005242.2:p.Ala829Ser
NM_004572.4:c.2617G>T	NP_004563.2:p.Ala873Ser