Canonical Allele Identifier: CA384362416

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974458G>T (hg19) ; chr12:g.32821524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821524G>T , CM000674.2:g.32821524G>T	GRCh38
NC_000012.11:g.32974458G>T , CM000674.1:g.32974458G>T	GRCh37
NC_000012.10:g.32865725G>T	NCBI36
NG_009000.1:g.80323C>A , LRG_398:g.80323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.348C>A
ENST00000700559.2:c.1845C>A	ENSP00000515065.2:p.Tyr615Ter
ENST00000700563.2:c.1845C>A	ENSP00000515066.2:p.Tyr615Ter
ENST00000546498.2:n.532C>A
ENST00000549461.2:n.384C>A
ENST00000700555.1:c.276C>A	ENSP00000515062.1:p.Tyr92Ter
ENST00000700556.1:c.316C>A
ENST00000700558.1:n.59C>A
ENST00000700559.1:c.1060C>A
ENST00000700560.1:n.1060C>A
ENST00000700561.1:n.1186C>A
ENST00000700562.1:n.383C>A
ENST00000700563.1:c.1799C>A
ENST00000700564.1:n.1849C>A
ENST00000070846.11:c.1977C>A	ENSP00000070846.6:p.Tyr659Ter
ENST00000340811.9:c.1845C>A MANE Select	ENSP00000342800.5:p.Tyr615Ter
ENST00000070846.10:c.1977C>A	ENSP00000070846.6:p.Tyr659Ter
ENST00000340811.8:c.1845C>A	ENSP00000342800.4:p.Tyr615Ter
ENST00000546498.1:n.532C>A
ENST00000549461.1:n.291C>A
ENST00000552612.5:n.266C>A
ENST00000613243.1:c.1977C>A	ENSP00000478295.1:p.Tyr659Ter
NM_001005242.2:c.1845C>A	NP_001005242.2:p.Tyr615Ter
NM_004572.3:c.1977C>A , LRG_398t1:c.1977C>A	NP_004563.2:p.Tyr659Ter
NM_001005242.3:c.1845C>A MANE Select	NP_001005242.2:p.Tyr615Ter
NM_004572.4:c.1977C>A	NP_004563.2:p.Tyr659Ter