Canonical Allele Identifier: CA479176117

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974359T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821425T>C , CM000674.2:g.32821425T>C	GRCh38
NC_000012.11:g.32974359T>C , CM000674.1:g.32974359T>C	GRCh37
NC_000012.10:g.32865626T>C	NCBI36
NG_009000.1:g.80422A>G , LRG_398:g.80422A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.447A>G
ENST00000700559.2:c.1944A>G	ENSP00000515065.2:p.Lys648=
ENST00000700563.2:c.1944A>G	ENSP00000515066.2:p.Lys648=
ENST00000546498.2:n.631A>G
ENST00000549461.2:n.483A>G
ENST00000700555.1:c.375A>G	ENSP00000515062.1:p.Lys125=
ENST00000700556.1:c.415A>G
ENST00000700558.1:n.158A>G
ENST00000700559.1:c.1159A>G
ENST00000700560.1:n.1159A>G
ENST00000700561.1:n.1285A>G
ENST00000700562.1:n.482A>G
ENST00000700563.1:c.1898A>G
ENST00000700564.1:n.1948A>G
ENST00000070846.11:c.2076A>G	ENSP00000070846.6:p.Lys692=
ENST00000340811.9:c.1944A>G MANE Select	ENSP00000342800.5:p.Lys648=
ENST00000070846.10:c.2076A>G	ENSP00000070846.6:p.Lys692=
ENST00000340811.8:c.1944A>G	ENSP00000342800.4:p.Lys648=
ENST00000549461.1:n.390A>G
ENST00000552612.5:n.365A>G
ENST00000613243.1:c.2076A>G	ENSP00000478295.1:p.Lys692=
NM_001005242.2:c.1944A>G	NP_001005242.2:p.Lys648=
NM_004572.3:c.2076A>G , LRG_398t1:c.2076A>G	NP_004563.2:p.Lys692=
NM_001005242.3:c.1944A>G MANE Select	NP_001005242.2:p.Lys648=
NM_004572.4:c.2076A>G	NP_004563.2:p.Lys692=