Canonical Allele Identifier: CA479177873

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2824162
• ClinVar RCV Id: RCV003618587
• MyVariant Identifiers: chr12:g.33003740C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850806C>T , CM000674.2:g.32850806C>T	GRCh38
NC_000012.11:g.33003740C>T , CM000674.1:g.33003740C>T	GRCh37
NC_000012.10:g.32895007C>T	NCBI36
NG_009000.1:g.51041G>A , LRG_398:g.51041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1338G>A	ENSP00000515065.2:p.Leu446=
ENST00000700563.2:c.1338G>A	ENSP00000515066.2:p.Leu446=
ENST00000700559.1:c.553G>A
ENST00000700560.1:n.553G>A
ENST00000700561.1:n.679G>A
ENST00000700563.1:c.1292G>A
ENST00000700564.1:n.1342G>A
ENST00000700565.1:n.1191G>A
ENST00000070846.11:c.1338G>A	ENSP00000070846.6:p.Leu446=
ENST00000340811.9:c.1338G>A MANE Select	ENSP00000342800.5:p.Leu446=
ENST00000070846.10:c.1338G>A	ENSP00000070846.6:p.Leu446=
ENST00000340811.8:c.1338G>A	ENSP00000342800.4:p.Leu446=
ENST00000613243.1:c.1338G>A	ENSP00000478295.1:p.Leu446=
NM_001005242.2:c.1338G>A	NP_001005242.2:p.Leu446=
NM_004572.3:c.1338G>A , LRG_398t1:c.1338G>A	NP_004563.2:p.Leu446=
NM_001005242.3:c.1338G>A MANE Select	NP_001005242.2:p.Leu446=
NM_004572.4:c.1338G>A	NP_004563.2:p.Leu446=