Canonical Allele Identifier: CA384363197

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1412205
• ClinVar RCV Id: RCV001943146
• dbSNP Id: rs2137777670
• MyVariant Identifiers: chr12:g.32975490G>A (hg19) ; chr12:g.32822556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822556G>A , CM000674.2:g.32822556G>A	GRCh38
NC_000012.11:g.32975490G>A , CM000674.1:g.32975490G>A	GRCh37
NC_000012.10:g.32866757G>A	NCBI36
NG_009000.1:g.79291C>T , LRG_398:g.79291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.262C>T
ENST00000700559.2:c.1750C>T	ENSP00000515065.2:p.Gln584Ter
ENST00000700563.2:c.1750C>T	ENSP00000515066.2:p.Gln584Ter
ENST00000546498.2:n.437C>T
ENST00000700555.1:c.190C>T	ENSP00000515062.1:p.Gln64Ter
ENST00000700556.1:c.221C>T
ENST00000700559.1:c.965C>T
ENST00000700560.1:n.965C>T
ENST00000700561.1:n.1091C>T
ENST00000700563.1:c.1704C>T
ENST00000700564.1:n.1754C>T
ENST00000070846.11:c.1882C>T	ENSP00000070846.6:p.Gln628Ter
ENST00000340811.9:c.1750C>T MANE Select	ENSP00000342800.5:p.Gln584Ter
ENST00000070846.10:c.1882C>T	ENSP00000070846.6:p.Gln628Ter
ENST00000340811.8:c.1750C>T	ENSP00000342800.4:p.Gln584Ter
ENST00000546498.1:n.437C>T
ENST00000552612.5:n.171C>T
ENST00000613243.1:c.1882C>T	ENSP00000478295.1:p.Gln628Ter
NM_001005242.2:c.1750C>T	NP_001005242.2:p.Gln584Ter
NM_004572.3:c.1882C>T , LRG_398t1:c.1882C>T	NP_004563.2:p.Gln628Ter
NM_001005242.3:c.1750C>T MANE Select	NP_001005242.2:p.Gln584Ter
NM_004572.4:c.1882C>T	NP_004563.2:p.Gln628Ter