Canonical Allele Identifier: CA604480677

Gene: PKP2

Linked Data

• dbSNP Id: rs1438424448
• gnomAD v2: 12-33003621-A-G
• gnomAD v4: 12-32850687-A-G
• MyVariant Identifiers: chr12:g.33003621A>G (hg19) ; chr12:g.32850687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850687A>G , CM000674.2:g.32850687A>G	GRCh38
NC_000012.11:g.33003621A>G , CM000674.1:g.33003621A>G	GRCh37
NC_000012.10:g.32894888A>G	NCBI36
NG_009000.1:g.51160T>C , LRG_398:g.51160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+79T>C	ENSP00000515065.2:n.1378+79T>C
ENST00000700563.2:c.1378+79T>C	ENSP00000515066.2:n.1378+79T>C
ENST00000700559.1:c.593+79T>C
ENST00000700560.1:n.593+79T>C
ENST00000700561.1:n.719+79T>C
ENST00000700563.1:c.1332+79T>C
ENST00000700564.1:n.1382+79T>C
ENST00000700565.1:n.1231+79T>C
ENST00000070846.11:c.1378+79T>C	ENSP00000070846.6:n.1378+79T>C
ENST00000340811.9:c.1378+79T>C MANE Select	ENSP00000342800.5:n.1378+79T>C
ENST00000070846.10:c.1378+79T>C	ENSP00000070846.6:n.1378+79T>C
ENST00000340811.8:c.1378+79T>C	ENSP00000342800.4:n.1378+79T>C
ENST00000613243.1:c.1378+79T>C	ENSP00000478295.1:n.1378+79T>C
NM_001005242.2:c.1378+79T>C	NP_001005242.2:n.1378+79T>C
NM_004572.3:c.1378+79T>C , LRG_398t1:c.1378+79T>C	NP_004563.2:n.1378+79T>C
NM_001005242.3:c.1378+79T>C MANE Select	NP_001005242.2:n.1378+79T>C
NM_004572.4:c.1378+79T>C	NP_004563.2:n.1378+79T>C