Canonical Allele Identifier: CA384359176

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1442222
• ClinVar RCV Id: RCV001952939
• dbSNP Id: rs1956873618
• MyVariant Identifiers: chr12:g.33021898T>A (hg19) ; chr12:g.32868964T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868964T>A , CM000674.2:g.32868964T>A	GRCh38
NC_000012.11:g.33021898T>A , CM000674.1:g.33021898T>A	GRCh37
NC_000012.10:g.32913165T>A	NCBI36
NG_009000.1:g.32883A>T , LRG_398:g.32883A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1133A>T	ENSP00000515065.2:p.Gln378Leu
ENST00000700563.2:c.1133A>T	ENSP00000515066.2:p.Gln378Leu
ENST00000700559.1:c.348A>T
ENST00000700560.1:n.348A>T
ENST00000700561.1:n.474A>T
ENST00000700563.1:c.1087A>T
ENST00000700564.1:n.1137A>T
ENST00000700565.1:n.986A>T
ENST00000070846.11:c.1133A>T	ENSP00000070846.6:p.Gln378Leu
ENST00000340811.9:c.1133A>T MANE Select	ENSP00000342800.5:p.Gln378Leu
ENST00000070846.10:c.1133A>T	ENSP00000070846.6:p.Gln378Leu
ENST00000340811.8:c.1133A>T	ENSP00000342800.4:p.Gln378Leu
ENST00000613243.1:c.1133A>T	ENSP00000478295.1:p.Gln378Leu
NM_001005242.2:c.1133A>T	NP_001005242.2:p.Gln378Leu
NM_004572.3:c.1133A>T , LRG_398t1:c.1133A>T	NP_004563.2:p.Gln378Leu
NM_001005242.3:c.1133A>T MANE Select	NP_001005242.2:p.Gln378Leu
NM_004572.4:c.1133A>T	NP_004563.2:p.Gln378Leu