Canonical Allele Identifier: CA384359338

Gene: PKP2

Linked Data

• ClinVar Variation Id: 941239
• ClinVar RCV Id: RCV001210983
• dbSNP Id: rs1956190526
• MyVariant Identifiers: chr12:g.32955366G>T (hg19) ; chr12:g.32802432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802432G>T , CM000674.2:g.32802432G>T	GRCh38
NC_000012.11:g.32955366G>T , CM000674.1:g.32955366G>T	GRCh37
NC_000012.10:g.32846633G>T	NCBI36
NG_009000.1:g.99415C>A , LRG_398:g.99415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.641C>A
ENST00000700557.2:n.230C>A
ENST00000700559.2:c.2138C>A	ENSP00000515065.2:p.Ser713Tyr
ENST00000546498.2:n.825C>A
ENST00000549461.2:n.659+18C>A
ENST00000700555.1:c.569C>A	ENSP00000515062.1:p.Ser190Tyr
ENST00000700556.1:c.609C>A
ENST00000700557.1:c.149C>A	ENSP00000515064.1:p.Ser50Tyr
ENST00000700558.1:n.352C>A
ENST00000700559.1:c.1353C>A
ENST00000700560.1:n.1353C>A
ENST00000700561.1:n.1479C>A
ENST00000070846.11:c.2270C>A	ENSP00000070846.6:p.Ser757Tyr
ENST00000340811.9:c.2138C>A MANE Select	ENSP00000342800.5:p.Ser713Tyr
ENST00000070846.10:c.2270C>A	ENSP00000070846.6:p.Ser757Tyr
ENST00000340811.8:c.2138C>A	ENSP00000342800.4:p.Ser713Tyr
ENST00000613243.1:c.2270C>A	ENSP00000478295.1:p.Ser757Tyr
NM_001005242.2:c.2138C>A	NP_001005242.2:p.Ser713Tyr
NM_004572.3:c.2270C>A , LRG_398t1:c.2270C>A	NP_004563.2:p.Ser757Tyr
NM_001005242.3:c.2138C>A MANE Select	NP_001005242.2:p.Ser713Tyr
NM_004572.4:c.2270C>A	NP_004563.2:p.Ser757Tyr