Canonical Allele Identifier: CA479176236

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975419T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822485T>G , CM000674.2:g.32822485T>G	GRCh38
NC_000012.11:g.32975419T>G , CM000674.1:g.32975419T>G	GRCh37
NC_000012.10:g.32866686T>G	NCBI36
NG_009000.1:g.79362A>C , LRG_398:g.79362A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.333A>C
ENST00000700559.2:c.1821A>C	ENSP00000515065.2:p.Arg607=
ENST00000700563.2:c.1821A>C	ENSP00000515066.2:p.Arg607=
ENST00000546498.2:n.508A>C
ENST00000700555.1:c.261A>C	ENSP00000515062.1:p.Arg87=
ENST00000700556.1:c.292A>C
ENST00000700559.1:c.1036A>C
ENST00000700560.1:n.1036A>C
ENST00000700561.1:n.1162A>C
ENST00000700563.1:c.1775A>C
ENST00000700564.1:n.1825A>C
ENST00000070846.11:c.1953A>C	ENSP00000070846.6:p.Arg651=
ENST00000340811.9:c.1821A>C MANE Select	ENSP00000342800.5:p.Arg607=
ENST00000070846.10:c.1953A>C	ENSP00000070846.6:p.Arg651=
ENST00000340811.8:c.1821A>C	ENSP00000342800.4:p.Arg607=
ENST00000546498.1:n.508A>C
ENST00000552612.5:n.242A>C
ENST00000613243.1:c.1953A>C	ENSP00000478295.1:p.Arg651=
NM_001005242.2:c.1821A>C	NP_001005242.2:p.Arg607=
NM_004572.3:c.1953A>C , LRG_398t1:c.1953A>C	NP_004563.2:p.Arg651=
NM_001005242.3:c.1821A>C MANE Select	NP_001005242.2:p.Arg607=
NM_004572.4:c.1953A>C	NP_004563.2:p.Arg651=