Canonical Allele Identifier: CA011321

Gene: PKP2

Linked Data

• ClinVar Variation Id: 201989
• ClinVar RCV Id: RCV000183751 ; RCV000702665
• dbSNP Id: rs78897684
• ExAC: 12:32977097 C / G
• gnomAD v2: 12-32977097-C-G
• gnomAD v3: 12-32824163-C-G
• gnomAD v4: 12-32824163-C-G
• MyVariant Identifiers: chr12:g.32977097C>G (hg19) ; chr12:g.32824163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824163C>G , CM000674.2:g.32824163C>G	GRCh38
NC_000012.11:g.32977097C>G , CM000674.1:g.32977097C>G	GRCh37
NC_000012.10:g.32868364C>G	NCBI36
NG_009000.1:g.77684G>C , LRG_398:g.77684G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.69-1G>C
ENST00000700559.2:c.1557-1G>C	ENSP00000515065.2:n.1557-1G>C
ENST00000700563.2:c.1557-1G>C	ENSP00000515066.2:n.1557-1G>C
ENST00000546498.2:n.243G>C
ENST00000700555.1:c.-4-1G>C	ENSP00000515062.1:n.-4-1G>C
ENST00000700556.1:c.28-1G>C
ENST00000700559.1:c.772-1G>C
ENST00000700560.1:n.772-1G>C
ENST00000700561.1:n.898-1G>C
ENST00000700563.1:c.1511-1G>C
ENST00000700564.1:n.1561-1G>C
ENST00000070846.11:c.1689-1G>C	ENSP00000070846.6:n.1689-1G>C
ENST00000340811.9:c.1557-1G>C MANE Select	ENSP00000342800.5:n.1557-1G>C
ENST00000070846.10:c.1689-1G>C	ENSP00000070846.6:n.1689-1G>C
ENST00000340811.8:c.1557-1G>C	ENSP00000342800.4:n.1557-1G>C
ENST00000546498.1:n.243G>C
ENST00000613243.1:c.1689-1G>C	ENSP00000478295.1:n.1689-1G>C
NM_001005242.2:c.1557-1G>C	NP_001005242.2:n.1557-1G>C
NM_004572.3:c.1689-1G>C , LRG_398t1:c.1689-1G>C	NP_004563.2:n.1689-1G>C
NM_001005242.3:c.1557-1G>C MANE Select	NP_001005242.2:n.1557-1G>C
NM_004572.4:c.1689-1G>C	NP_004563.2:n.1689-1G>C