Canonical Allele Identifier: CA384359211

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955346T>C (hg19) ; chr12:g.32802412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802412T>C , CM000674.2:g.32802412T>C	GRCh38
NC_000012.11:g.32955346T>C , CM000674.1:g.32955346T>C	GRCh37
NC_000012.10:g.32846613T>C	NCBI36
NG_009000.1:g.99435A>G , LRG_398:g.99435A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.661A>G
ENST00000700557.2:n.250A>G
ENST00000700559.2:c.2158A>G	ENSP00000515065.2:p.Asn720Asp
ENST00000546498.2:n.845A>G
ENST00000549461.2:n.659+38A>G
ENST00000700555.1:c.589A>G	ENSP00000515062.1:p.Asn197Asp
ENST00000700556.1:c.629A>G
ENST00000700557.1:c.169A>G	ENSP00000515064.1:p.Asn57Asp
ENST00000700558.1:n.372A>G
ENST00000700559.1:c.1373A>G
ENST00000700560.1:n.1373A>G
ENST00000700561.1:n.1499A>G
ENST00000070846.11:c.2290A>G	ENSP00000070846.6:p.Asn764Asp
ENST00000340811.9:c.2158A>G MANE Select	ENSP00000342800.5:p.Asn720Asp
ENST00000070846.10:c.2290A>G	ENSP00000070846.6:p.Asn764Asp
ENST00000340811.8:c.2158A>G	ENSP00000342800.4:p.Asn720Asp
ENST00000613243.1:c.2290A>G	ENSP00000478295.1:p.Asn764Asp
NM_001005242.2:c.2158A>G	NP_001005242.2:p.Asn720Asp
NM_004572.3:c.2290A>G , LRG_398t1:c.2290A>G	NP_004563.2:p.Asn764Asp
NM_001005242.3:c.2158A>G MANE Select	NP_001005242.2:p.Asn720Asp
NM_004572.4:c.2290A>G	NP_004563.2:p.Asn764Asp