Canonical Allele Identifier: CA384366426

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.33031879A>G (hg19) ; chr12:g.32878945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878945A>G , CM000674.2:g.32878945A>G	GRCh38
NC_000012.11:g.33031879A>G , CM000674.1:g.33031879A>G	GRCh37
NC_000012.10:g.32923146A>G	NCBI36
NG_009000.1:g.22902T>C , LRG_398:g.22902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.311T>C	ENSP00000515065.2:p.Val104Ala
ENST00000700563.2:c.311T>C	ENSP00000515066.2:p.Val104Ala
ENST00000700563.1:c.265T>C
ENST00000700564.1:n.315T>C
ENST00000700565.1:n.164T>C
ENST00000070846.11:c.311T>C	ENSP00000070846.6:p.Val104Ala
ENST00000340811.9:c.311T>C MANE Select	ENSP00000342800.5:p.Val104Ala
ENST00000070846.10:c.311T>C	ENSP00000070846.6:p.Val104Ala
ENST00000340811.8:c.311T>C	ENSP00000342800.4:p.Val104Ala
ENST00000613243.1:c.311T>C	ENSP00000478295.1:p.Val104Ala
NM_001005242.2:c.311T>C	NP_001005242.2:p.Val104Ala
NM_004572.3:c.311T>C , LRG_398t1:c.311T>C	NP_004563.2:p.Val104Ala
NM_001005242.3:c.311T>C MANE Select	NP_001005242.2:p.Val104Ala
NM_004572.4:c.311T>C	NP_004563.2:p.Val104Ala