Canonical Allele Identifier: CA384357551

Gene: PKP2

Linked Data

• ClinVar Variation Id: 927656
• ClinVar RCV Id: RCV001191053
• dbSNP Id: rs1956119423
• MyVariant Identifiers: chr12:g.32949062C>T (hg19) ; chr12:g.32796128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796128C>T , CM000674.2:g.32796128C>T	GRCh38
NC_000012.11:g.32949062C>T , CM000674.1:g.32949062C>T	GRCh37
NC_000012.10:g.32840329C>T	NCBI36
NG_009000.1:g.105719G>A , LRG_398:g.105719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.841G>A
ENST00000700557.2:n.430G>A
ENST00000700559.2:c.2168-3397G>A	ENSP00000515065.2:n.2168-3397G>A
ENST00000546498.2:n.1025G>A
ENST00000549461.2:n.830G>A
ENST00000700555.1:c.769G>A	ENSP00000515062.1:p.Ala257Thr
ENST00000700556.1:c.809G>A
ENST00000700557.1:c.349G>A	ENSP00000515064.1:p.Ala117Thr
ENST00000700558.1:n.552G>A
ENST00000700559.1:c.1383-3397G>A
ENST00000700560.1:n.1553G>A
ENST00000700561.1:n.1679G>A
ENST00000070846.11:c.2470G>A	ENSP00000070846.6:p.Ala824Thr
ENST00000340811.9:c.2338G>A MANE Select	ENSP00000342800.5:p.Ala780Thr
ENST00000070846.10:c.2470G>A	ENSP00000070846.6:p.Ala824Thr
ENST00000340811.8:c.2338G>A	ENSP00000342800.4:p.Ala780Thr
ENST00000613243.1:c.2468G>A	ENSP00000478295.1:p.Gly823Asp
NM_001005242.2:c.2338G>A	NP_001005242.2:p.Ala780Thr
NM_004572.3:c.2470G>A , LRG_398t1:c.2470G>A	NP_004563.2:p.Ala824Thr
NM_001005242.3:c.2338G>A MANE Select	NP_001005242.2:p.Ala780Thr
NM_004572.4:c.2470G>A	NP_004563.2:p.Ala824Thr