Canonical Allele Identifier: CA479176559

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32977000T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824066T>G , CM000674.2:g.32824066T>G	GRCh38
NC_000012.11:g.32977000T>G , CM000674.1:g.32977000T>G	GRCh37
NC_000012.10:g.32868267T>G	NCBI36
NG_009000.1:g.77781A>C , LRG_398:g.77781A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.165A>C
ENST00000700559.2:c.1653A>C	ENSP00000515065.2:p.Ala551=
ENST00000700563.2:c.1653A>C	ENSP00000515066.2:p.Ala551=
ENST00000546498.2:n.340A>C
ENST00000700555.1:c.93A>C	ENSP00000515062.1:p.Ala31=
ENST00000700556.1:c.124A>C
ENST00000700559.1:c.868A>C
ENST00000700560.1:n.868A>C
ENST00000700561.1:n.994A>C
ENST00000700563.1:c.1607A>C
ENST00000700564.1:n.1657A>C
ENST00000070846.11:c.1785A>C	ENSP00000070846.6:p.Ala595=
ENST00000340811.9:c.1653A>C MANE Select	ENSP00000342800.5:p.Ala551=
ENST00000070846.10:c.1785A>C	ENSP00000070846.6:p.Ala595=
ENST00000340811.8:c.1653A>C	ENSP00000342800.4:p.Ala551=
ENST00000546498.1:n.340A>C
ENST00000552612.5:n.74A>C
ENST00000613243.1:c.1785A>C	ENSP00000478295.1:p.Ala595=
NM_001005242.2:c.1653A>C	NP_001005242.2:p.Ala551=
NM_004572.3:c.1785A>C , LRG_398t1:c.1785A>C	NP_004563.2:p.Ala595=
NM_001005242.3:c.1653A>C MANE Select	NP_001005242.2:p.Ala551=
NM_004572.4:c.1785A>C	NP_004563.2:p.Ala595=