Canonical Allele Identifier: CA10641071

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308491
• ClinVar RCV Id: RCV000284247
• dbSNP Id: rs886049314
• MyVariant Identifiers: chr12:g.32944779G>T (hg19) ; chr12:g.32791845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791845G>T , CM000674.2:g.32791845G>T	GRCh38
NC_000012.11:g.32944779G>T , CM000674.1:g.32944779G>T	GRCh37
NC_000012.10:g.32836046G>T	NCBI36
NG_009000.1:g.110002C>A , LRG_398:g.110002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1596C>A
ENST00000700557.2:n.1185C>A
ENST00000700559.2:c.*434C>A	ENSP00000515065.2:n.*434C>A
ENST00000549461.2:n.1585C>A
ENST00000700555.1:c.*579C>A	ENSP00000515062.1:n.*579C>A
ENST00000700556.1:c.1564C>A
ENST00000700557.1:c.*579C>A	ENSP00000515064.1:n.*579C>A
ENST00000700558.1:n.1307C>A
ENST00000700559.1:c.2118C>A
ENST00000070846.11:c.*579C>A	ENSP00000070846.6:n.*579C>A
ENST00000340811.9:c.*579C>A MANE Select	ENSP00000342800.5:n.*579C>A
ENST00000070846.10:c.*579C>A	ENSP00000070846.6:n.*579C>A
ENST00000340811.8:c.*579C>A	ENSP00000342800.4:n.*579C>A
NM_001005242.2:c.*579C>A	NP_001005242.2:n.*579C>A
NM_004572.3:c.*579C>A , LRG_398t1:c.*579C>A	NP_004563.2:n.*579C>A
NM_001005242.3:c.*579C>A MANE Select	NP_001005242.2:n.*579C>A
NM_004572.4:c.*579C>A	NP_004563.2:n.*579C>A