Canonical Allele Identifier: CA479174852

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955473A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802539A>C , CM000674.2:g.32802539A>C	GRCh38
NC_000012.11:g.32955473A>C , CM000674.1:g.32955473A>C	GRCh37
NC_000012.10:g.32846740A>C	NCBI36
NG_009000.1:g.99308T>G , LRG_398:g.99308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.534T>G
ENST00000700557.2:n.123T>G
ENST00000700559.2:c.2031T>G	ENSP00000515065.2:p.Ala677=
ENST00000546498.2:n.718T>G
ENST00000549461.2:n.570T>G
ENST00000700555.1:c.462T>G	ENSP00000515062.1:p.Ala154=
ENST00000700556.1:c.502T>G
ENST00000700557.1:c.42T>G	ENSP00000515064.1:p.Ala14=
ENST00000700558.1:n.245T>G
ENST00000700559.1:c.1246T>G
ENST00000700560.1:n.1246T>G
ENST00000700561.1:n.1372T>G
ENST00000070846.11:c.2163T>G	ENSP00000070846.6:p.Ala721=
ENST00000340811.9:c.2031T>G MANE Select	ENSP00000342800.5:p.Ala677=
ENST00000070846.10:c.2163T>G	ENSP00000070846.6:p.Ala721=
ENST00000340811.8:c.2031T>G	ENSP00000342800.4:p.Ala677=
ENST00000549461.1:n.477T>G
ENST00000613243.1:c.2163T>G	ENSP00000478295.1:p.Ala721=
NM_001005242.2:c.2031T>G	NP_001005242.2:p.Ala677=
NM_004572.3:c.2163T>G , LRG_398t1:c.2163T>G	NP_004563.2:p.Ala721=
NM_001005242.3:c.2031T>G MANE Select	NP_001005242.2:p.Ala677=
NM_004572.4:c.2163T>G	NP_004563.2:p.Ala721=