Canonical Allele Identifier: CA384367980

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32994093C>G (hg19) ; chr12:g.32841159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841159C>G , CM000674.2:g.32841159C>G	GRCh38
NC_000012.11:g.32994093C>G , CM000674.1:g.32994093C>G	GRCh37
NC_000012.10:g.32885360C>G	NCBI36
NG_009000.1:g.60688G>C , LRG_398:g.60688G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1425G>C	ENSP00000515065.2:p.Met475Ile
ENST00000700563.2:c.1425G>C	ENSP00000515066.2:p.Met475Ile
ENST00000700559.1:c.640G>C
ENST00000700560.1:n.640G>C
ENST00000700561.1:n.766G>C
ENST00000700563.1:c.1379G>C
ENST00000700564.1:n.1429G>C
ENST00000700565.1:n.1278G>C
ENST00000070846.11:c.1557G>C	ENSP00000070846.6:p.Met519Ile
ENST00000340811.9:c.1425G>C MANE Select	ENSP00000342800.5:p.Met475Ile
ENST00000070846.10:c.1557G>C	ENSP00000070846.6:p.Met519Ile
ENST00000340811.8:c.1425G>C	ENSP00000342800.4:p.Met475Ile
ENST00000613243.1:c.1557G>C	ENSP00000478295.1:p.Met519Ile
NM_001005242.2:c.1425G>C	NP_001005242.2:p.Met475Ile
NM_004572.3:c.1557G>C , LRG_398t1:c.1557G>C	NP_004563.2:p.Met519Ile
NM_001005242.3:c.1425G>C MANE Select	NP_001005242.2:p.Met475Ile
NM_004572.4:c.1557G>C	NP_004563.2:p.Met519Ile