Canonical Allele Identifier: CA384368132

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32994126A>C (hg19) ; chr12:g.32841192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841192A>C , CM000674.2:g.32841192A>C	GRCh38
NC_000012.11:g.32994126A>C , CM000674.1:g.32994126A>C	GRCh37
NC_000012.10:g.32885393A>C	NCBI36
NG_009000.1:g.60655T>G , LRG_398:g.60655T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1392T>G	ENSP00000515065.2:p.Asn464Lys
ENST00000700563.2:c.1392T>G	ENSP00000515066.2:p.Asn464Lys
ENST00000700559.1:c.607T>G
ENST00000700560.1:n.607T>G
ENST00000700561.1:n.733T>G
ENST00000700563.1:c.1346T>G
ENST00000700564.1:n.1396T>G
ENST00000700565.1:n.1245T>G
ENST00000070846.11:c.1524T>G	ENSP00000070846.6:p.Asn508Lys
ENST00000340811.9:c.1392T>G MANE Select	ENSP00000342800.5:p.Asn464Lys
ENST00000070846.10:c.1524T>G	ENSP00000070846.6:p.Asn508Lys
ENST00000340811.8:c.1392T>G	ENSP00000342800.4:p.Asn464Lys
ENST00000613243.1:c.1524T>G	ENSP00000478295.1:p.Asn508Lys
NM_001005242.2:c.1392T>G	NP_001005242.2:p.Asn464Lys
NM_004572.3:c.1524T>G , LRG_398t1:c.1524T>G	NP_004563.2:p.Asn508Lys
NM_001005242.3:c.1392T>G MANE Select	NP_001005242.2:p.Asn464Lys
NM_004572.4:c.1524T>G	NP_004563.2:p.Asn508Lys