Canonical Allele Identifier: CA479174837

Gene: PKP2

Linked Data

• dbSNP Id: rs1422427818
• gnomAD v2: 12-32955461-G-C
• gnomAD v4: 12-32802527-G-C
• MyVariant Identifiers: chr12:g.32955461G>C (hg19) ; chr12:g.32802527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802527G>C , CM000674.2:g.32802527G>C	GRCh38
NC_000012.11:g.32955461G>C , CM000674.1:g.32955461G>C	GRCh37
NC_000012.10:g.32846728G>C	NCBI36
NG_009000.1:g.99320C>G , LRG_398:g.99320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.546C>G
ENST00000700557.2:n.135C>G
ENST00000700559.2:c.2043C>G	ENSP00000515065.2:p.Val681=
ENST00000546498.2:n.730C>G
ENST00000549461.2:n.582C>G
ENST00000700555.1:c.474C>G	ENSP00000515062.1:p.Val158=
ENST00000700556.1:c.514C>G
ENST00000700557.1:c.54C>G	ENSP00000515064.1:p.Val18=
ENST00000700558.1:n.257C>G
ENST00000700559.1:c.1258C>G
ENST00000700560.1:n.1258C>G
ENST00000700561.1:n.1384C>G
ENST00000070846.11:c.2175C>G	ENSP00000070846.6:p.Val725=
ENST00000340811.9:c.2043C>G MANE Select	ENSP00000342800.5:p.Val681=
ENST00000070846.10:c.2175C>G	ENSP00000070846.6:p.Val725=
ENST00000340811.8:c.2043C>G	ENSP00000342800.4:p.Val681=
ENST00000549461.1:n.489C>G
ENST00000613243.1:c.2175C>G	ENSP00000478295.1:p.Val725=
NM_001005242.2:c.2043C>G	NP_001005242.2:p.Val681=
NM_004572.3:c.2175C>G , LRG_398t1:c.2175C>G	NP_004563.2:p.Val725=
NM_001005242.3:c.2043C>G MANE Select	NP_001005242.2:p.Val681=
NM_004572.4:c.2175C>G	NP_004563.2:p.Val725=