Canonical Allele Identifier: CA384359397

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3069609
• ClinVar RCV Id: RCV004008153
• MyVariant Identifiers: chr12:g.32955373T>A (hg19) ; chr12:g.32802439T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802439T>A , CM000674.2:g.32802439T>A	GRCh38
NC_000012.11:g.32955373T>A , CM000674.1:g.32955373T>A	GRCh37
NC_000012.10:g.32846640T>A	NCBI36
NG_009000.1:g.99408A>T , LRG_398:g.99408A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.634A>T
ENST00000700557.2:n.223A>T
ENST00000700559.2:c.2131A>T	ENSP00000515065.2:p.Asn711Tyr
ENST00000546498.2:n.818A>T
ENST00000549461.2:n.659+11A>T
ENST00000700555.1:c.562A>T	ENSP00000515062.1:p.Asn188Tyr
ENST00000700556.1:c.602A>T
ENST00000700557.1:c.142A>T	ENSP00000515064.1:p.Asn48Tyr
ENST00000700558.1:n.345A>T
ENST00000700559.1:c.1346A>T
ENST00000700560.1:n.1346A>T
ENST00000700561.1:n.1472A>T
ENST00000070846.11:c.2263A>T	ENSP00000070846.6:p.Asn755Tyr
ENST00000340811.9:c.2131A>T MANE Select	ENSP00000342800.5:p.Asn711Tyr
ENST00000070846.10:c.2263A>T	ENSP00000070846.6:p.Asn755Tyr
ENST00000340811.8:c.2131A>T	ENSP00000342800.4:p.Asn711Tyr
ENST00000613243.1:c.2263A>T	ENSP00000478295.1:p.Asn755Tyr
NM_001005242.2:c.2131A>T	NP_001005242.2:p.Asn711Tyr
NM_004572.3:c.2263A>T , LRG_398t1:c.2263A>T	NP_004563.2:p.Asn755Tyr
NM_001005242.3:c.2131A>T MANE Select	NP_001005242.2:p.Asn711Tyr
NM_004572.4:c.2263A>T	NP_004563.2:p.Asn755Tyr