Canonical Allele Identifier: CA011554

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45049
• ClinVar RCV Id: RCV000183763 ; RCV000211841 ; RCV000531123 ; RCV001175485 ; RCV001188338
• dbSNP Id: rs397517012
• gnomAD v2: 12-32975460-G-A
• gnomAD v3: 12-32822526-G-A
• gnomAD v4: 12-32822526-G-A
• MyVariant Identifiers: chr12:g.32975460G>A (hg19) ; chr12:g.32822526G>A (hg38)
• PubMed: PMID:15489853

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822526G>A , CM000674.2:g.32822526G>A	GRCh38
NC_000012.11:g.32975460G>A , CM000674.1:g.32975460G>A	GRCh37
NC_000012.10:g.32866727G>A	NCBI36
NG_009000.1:g.79321C>T , LRG_398:g.79321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.292C>T
ENST00000700559.2:c.1780C>T	ENSP00000515065.2:p.Gln594Ter
ENST00000700563.2:c.1780C>T	ENSP00000515066.2:p.Gln594Ter
ENST00000546498.2:n.467C>T
ENST00000700555.1:c.220C>T	ENSP00000515062.1:p.Gln74Ter
ENST00000700556.1:c.251C>T
ENST00000700559.1:c.995C>T
ENST00000700560.1:n.995C>T
ENST00000700561.1:n.1121C>T
ENST00000700563.1:c.1734C>T
ENST00000700564.1:n.1784C>T
ENST00000070846.11:c.1912C>T	ENSP00000070846.6:p.Gln638Ter
ENST00000340811.9:c.1780C>T MANE Select	ENSP00000342800.5:p.Gln594Ter
ENST00000070846.10:c.1912C>T	ENSP00000070846.6:p.Gln638Ter
ENST00000340811.8:c.1780C>T	ENSP00000342800.4:p.Gln594Ter
ENST00000546498.1:n.467C>T
ENST00000552612.5:n.201C>T
ENST00000613243.1:c.1912C>T	ENSP00000478295.1:p.Gln638Ter
NM_001005242.2:c.1780C>T	NP_001005242.2:p.Gln594Ter
NM_004572.3:c.1912C>T , LRG_398t1:c.1912C>T	NP_004563.2:p.Gln638Ter
NM_001005242.3:c.1780C>T MANE Select	NP_001005242.2:p.Gln594Ter
NM_004572.4:c.1912C>T	NP_004563.2:p.Gln638Ter