Canonical Allele Identifier: CA035877

Gene: PKP2

Linked Data

• ClinVar Variation Id: 512256
• ClinVar RCV Id: RCV000607295 ; RCV001190499 ; RCV002532760 ; RCV003380632 ; RCV004002548
• dbSNP Id: rs199900632
• ExAC: 12:32945602 C / T
• gnomAD v2: 12-32945602-C-T
• gnomAD v3: 12-32792668-C-T
• gnomAD v4: 12-32792668-C-T
• MyVariant Identifiers: chr12:g.32945602C>T (hg19) ; chr12:g.32792668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792668C>T , CM000674.2:g.32792668C>T	GRCh38
NC_000012.11:g.32945602C>T , CM000674.1:g.32945602C>T	GRCh37
NC_000012.10:g.32836869C>T	NCBI36
NG_009000.1:g.109179G>A , LRG_398:g.109179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.924G>A
ENST00000700557.2:n.513G>A
ENST00000700559.2:c.2231G>A	ENSP00000515065.2:p.Arg744Gln
ENST00000546498.2:n.1108G>A
ENST00000549461.2:n.913G>A
ENST00000700555.1:c.852G>A	ENSP00000515062.1:p.Thr284=
ENST00000700556.1:c.892G>A
ENST00000700557.1:c.432G>A	ENSP00000515064.1:p.Thr144=
ENST00000700558.1:n.635G>A
ENST00000700559.1:c.1446G>A
ENST00000700560.1:n.1636G>A
ENST00000070846.11:c.2553G>A	ENSP00000070846.6:p.Thr851=
ENST00000340811.9:c.2421G>A MANE Select	ENSP00000342800.5:p.Thr807=
ENST00000070846.10:c.2553G>A	ENSP00000070846.6:p.Thr851=
ENST00000340811.8:c.2421G>A	ENSP00000342800.4:p.Thr807=
ENST00000546769.1:n.208G>A
ENST00000613243.1:c.2551G>A	ENSP00000478295.1:n.2551G>A
NM_001005242.2:c.2421G>A	NP_001005242.2:p.Thr807=
NM_004572.3:c.2553G>A , LRG_398t1:c.2553G>A	NP_004563.2:p.Thr851=
NM_001005242.3:c.2421G>A MANE Select	NP_001005242.2:p.Thr807=
NM_004572.4:c.2553G>A	NP_004563.2:p.Thr851=