Canonical Allele Identifier: CA479173539

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949204G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796270G>C , CM000674.2:g.32796270G>C	GRCh38
NC_000012.11:g.32949204G>C , CM000674.1:g.32949204G>C	GRCh37
NC_000012.10:g.32840471G>C	NCBI36
NG_009000.1:g.105577C>G , LRG_398:g.105577C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.699C>G
ENST00000700557.2:n.288C>G
ENST00000700559.2:c.2168-3539C>G	ENSP00000515065.2:n.2168-3539C>G
ENST00000546498.2:n.883C>G
ENST00000549461.2:n.688C>G
ENST00000700555.1:c.627C>G	ENSP00000515062.1:p.Ser209=
ENST00000700556.1:c.667C>G
ENST00000700557.1:c.207C>G	ENSP00000515064.1:p.Ser69=
ENST00000700558.1:n.410C>G
ENST00000700559.1:c.1383-3539C>G
ENST00000700560.1:n.1411C>G
ENST00000700561.1:n.1537C>G
ENST00000070846.11:c.2328C>G	ENSP00000070846.6:p.Ser776=
ENST00000340811.9:c.2196C>G MANE Select	ENSP00000342800.5:p.Ser732=
ENST00000070846.10:c.2328C>G	ENSP00000070846.6:p.Ser776=
ENST00000340811.8:c.2196C>G	ENSP00000342800.4:p.Ser732=
ENST00000613243.1:c.2328C>G	ENSP00000478295.1:p.Ser776=
NM_001005242.2:c.2196C>G	NP_001005242.2:p.Ser732=
NM_004572.3:c.2328C>G , LRG_398t1:c.2328C>G	NP_004563.2:p.Ser776=
NM_001005242.3:c.2196C>G MANE Select	NP_001005242.2:p.Ser732=
NM_004572.4:c.2328C>G	NP_004563.2:p.Ser776=