Canonical Allele Identifier: CA384361752

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974357C>T (hg19) ; chr12:g.32821423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821423C>T , CM000674.2:g.32821423C>T	GRCh38
NC_000012.11:g.32974357C>T , CM000674.1:g.32974357C>T	GRCh37
NC_000012.10:g.32865624C>T	NCBI36
NG_009000.1:g.80424G>A , LRG_398:g.80424G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.449G>A
ENST00000700559.2:c.1946G>A	ENSP00000515065.2:p.Ser649Asn
ENST00000700563.2:c.1946G>A	ENSP00000515066.2:p.Ser649Asn
ENST00000546498.2:n.633G>A
ENST00000549461.2:n.485G>A
ENST00000700555.1:c.377G>A	ENSP00000515062.1:p.Ser126Asn
ENST00000700556.1:c.417G>A
ENST00000700558.1:n.160G>A
ENST00000700559.1:c.1161G>A
ENST00000700560.1:n.1161G>A
ENST00000700561.1:n.1287G>A
ENST00000700562.1:n.484G>A
ENST00000700563.1:c.1900G>A
ENST00000700564.1:n.1950G>A
ENST00000070846.11:c.2078G>A	ENSP00000070846.6:p.Ser693Asn
ENST00000340811.9:c.1946G>A MANE Select	ENSP00000342800.5:p.Ser649Asn
ENST00000070846.10:c.2078G>A	ENSP00000070846.6:p.Ser693Asn
ENST00000340811.8:c.1946G>A	ENSP00000342800.4:p.Ser649Asn
ENST00000549461.1:n.392G>A
ENST00000552612.5:n.367G>A
ENST00000613243.1:c.2078G>A	ENSP00000478295.1:p.Ser693Asn
NM_001005242.2:c.1946G>A	NP_001005242.2:p.Ser649Asn
NM_004572.3:c.2078G>A , LRG_398t1:c.2078G>A	NP_004563.2:p.Ser693Asn
NM_001005242.3:c.1946G>A MANE Select	NP_001005242.2:p.Ser649Asn
NM_004572.4:c.2078G>A	NP_004563.2:p.Ser693Asn