Canonical Allele Identifier: CA384362321

Gene: PKP2

Linked Data

• ClinVar Variation Id: 919558
• ClinVar RCV Id: RCV001177796 ; RCV004006412
• dbSNP Id: rs773061639
• gnomAD v2: 12-32974441-G-A
• gnomAD v3: 12-32821507-G-A
• gnomAD v4: 12-32821507-G-A
• MyVariant Identifiers: chr12:g.32974441G>A (hg19) ; chr12:g.32821507G>A (hg38)
• PubMed: PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821507G>A , CM000674.2:g.32821507G>A	GRCh38
NC_000012.11:g.32974441G>A , CM000674.1:g.32974441G>A	GRCh37
NC_000012.10:g.32865708G>A	NCBI36
NG_009000.1:g.80340C>T , LRG_398:g.80340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.365C>T
ENST00000700559.2:c.1862C>T	ENSP00000515065.2:p.Pro621Leu
ENST00000700563.2:c.1862C>T	ENSP00000515066.2:p.Pro621Leu
ENST00000546498.2:n.549C>T
ENST00000549461.2:n.401C>T
ENST00000700555.1:c.293C>T	ENSP00000515062.1:p.Pro98Leu
ENST00000700556.1:c.333C>T
ENST00000700558.1:n.76C>T
ENST00000700559.1:c.1077C>T
ENST00000700560.1:n.1077C>T
ENST00000700561.1:n.1203C>T
ENST00000700562.1:n.400C>T
ENST00000700563.1:c.1816C>T
ENST00000700564.1:n.1866C>T
ENST00000070846.11:c.1994C>T	ENSP00000070846.6:p.Pro665Leu
ENST00000340811.9:c.1862C>T MANE Select	ENSP00000342800.5:p.Pro621Leu
ENST00000070846.10:c.1994C>T	ENSP00000070846.6:p.Pro665Leu
ENST00000340811.8:c.1862C>T	ENSP00000342800.4:p.Pro621Leu
ENST00000546498.1:n.549C>T
ENST00000549461.1:n.308C>T
ENST00000552612.5:n.283C>T
ENST00000613243.1:c.1994C>T	ENSP00000478295.1:p.Pro665Leu
NM_001005242.2:c.1862C>T	NP_001005242.2:p.Pro621Leu
NM_004572.3:c.1994C>T , LRG_398t1:c.1994C>T	NP_004563.2:p.Pro665Leu
NM_001005242.3:c.1862C>T MANE Select	NP_001005242.2:p.Pro621Leu
NM_004572.4:c.1994C>T	NP_004563.2:p.Pro665Leu