Canonical Allele Identifier: CA384360079

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1786689
• ClinVar RCV Id: RCV002432409 ; RCV004007400
• gnomAD v4: 12-32802553-G-T
• MyVariant Identifiers: chr12:g.32955487G>T (hg19) ; chr12:g.32802553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802553G>T , CM000674.2:g.32802553G>T	GRCh38
NC_000012.11:g.32955487G>T , CM000674.1:g.32955487G>T	GRCh37
NC_000012.10:g.32846754G>T	NCBI36
NG_009000.1:g.99294C>A , LRG_398:g.99294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.520C>A
ENST00000700557.2:n.109C>A
ENST00000700559.2:c.2017C>A	ENSP00000515065.2:p.Pro673Thr
ENST00000546498.2:n.704C>A
ENST00000549461.2:n.556C>A
ENST00000700555.1:c.448C>A	ENSP00000515062.1:p.Pro150Thr
ENST00000700556.1:c.488C>A
ENST00000700557.1:c.28C>A	ENSP00000515064.1:p.Pro10Thr
ENST00000700558.1:n.231C>A
ENST00000700559.1:c.1232C>A
ENST00000700560.1:n.1232C>A
ENST00000700561.1:n.1358C>A
ENST00000070846.11:c.2149C>A	ENSP00000070846.6:p.Pro717Thr
ENST00000340811.9:c.2017C>A MANE Select	ENSP00000342800.5:p.Pro673Thr
ENST00000070846.10:c.2149C>A	ENSP00000070846.6:p.Pro717Thr
ENST00000340811.8:c.2017C>A	ENSP00000342800.4:p.Pro673Thr
ENST00000549461.1:n.463C>A
ENST00000613243.1:c.2149C>A	ENSP00000478295.1:p.Pro717Thr
NM_001005242.2:c.2017C>A	NP_001005242.2:p.Pro673Thr
NM_004572.3:c.2149C>A , LRG_398t1:c.2149C>A	NP_004563.2:p.Pro717Thr
NM_001005242.3:c.2017C>A MANE Select	NP_001005242.2:p.Pro673Thr
NM_004572.4:c.2149C>A	NP_004563.2:p.Pro717Thr