Canonical Allele Identifier: CA384361770

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974363G>C (hg19) ; chr12:g.32821429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821429G>C , CM000674.2:g.32821429G>C	GRCh38
NC_000012.11:g.32974363G>C , CM000674.1:g.32974363G>C	GRCh37
NC_000012.10:g.32865630G>C	NCBI36
NG_009000.1:g.80418C>G , LRG_398:g.80418C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.443C>G
ENST00000700559.2:c.1940C>G	ENSP00000515065.2:p.Ala647Gly
ENST00000700563.2:c.1940C>G	ENSP00000515066.2:p.Ala647Gly
ENST00000546498.2:n.627C>G
ENST00000549461.2:n.479C>G
ENST00000700555.1:c.371C>G	ENSP00000515062.1:p.Ala124Gly
ENST00000700556.1:c.411C>G
ENST00000700558.1:n.154C>G
ENST00000700559.1:c.1155C>G
ENST00000700560.1:n.1155C>G
ENST00000700561.1:n.1281C>G
ENST00000700562.1:n.478C>G
ENST00000700563.1:c.1894C>G
ENST00000700564.1:n.1944C>G
ENST00000070846.11:c.2072C>G	ENSP00000070846.6:p.Ala691Gly
ENST00000340811.9:c.1940C>G MANE Select	ENSP00000342800.5:p.Ala647Gly
ENST00000070846.10:c.2072C>G	ENSP00000070846.6:p.Ala691Gly
ENST00000340811.8:c.1940C>G	ENSP00000342800.4:p.Ala647Gly
ENST00000549461.1:n.386C>G
ENST00000552612.5:n.361C>G
ENST00000613243.1:c.2072C>G	ENSP00000478295.1:p.Ala691Gly
NM_001005242.2:c.1940C>G	NP_001005242.2:p.Ala647Gly
NM_004572.3:c.2072C>G , LRG_398t1:c.2072C>G	NP_004563.2:p.Ala691Gly
NM_001005242.3:c.1940C>G MANE Select	NP_001005242.2:p.Ala647Gly
NM_004572.4:c.2072C>G	NP_004563.2:p.Ala691Gly