Canonical Allele Identifier: CA384357530

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949058A>C (hg19) ; chr12:g.32796124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796124A>C , CM000674.2:g.32796124A>C	GRCh38
NC_000012.11:g.32949058A>C , CM000674.1:g.32949058A>C	GRCh37
NC_000012.10:g.32840325A>C	NCBI36
NG_009000.1:g.105723T>G , LRG_398:g.105723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.845T>G
ENST00000700557.2:n.434T>G
ENST00000700559.2:c.2168-3393T>G	ENSP00000515065.2:n.2168-3393T>G
ENST00000546498.2:n.1029T>G
ENST00000549461.2:n.834T>G
ENST00000700555.1:c.773T>G	ENSP00000515062.1:p.Ile258Ser
ENST00000700556.1:c.813T>G
ENST00000700557.1:c.353T>G	ENSP00000515064.1:p.Ile118Ser
ENST00000700558.1:n.556T>G
ENST00000700559.1:c.1383-3393T>G
ENST00000700560.1:n.1557T>G
ENST00000700561.1:n.1683T>G
ENST00000070846.11:c.2474T>G	ENSP00000070846.6:p.Ile825Ser
ENST00000340811.9:c.2342T>G MANE Select	ENSP00000342800.5:p.Ile781Ser
ENST00000070846.10:c.2474T>G	ENSP00000070846.6:p.Ile825Ser
ENST00000340811.8:c.2342T>G	ENSP00000342800.4:p.Ile781Ser
ENST00000613243.1:c.2472T>G	ENSP00000478295.1:p.His824Gln
NM_001005242.2:c.2342T>G	NP_001005242.2:p.Ile781Ser
NM_004572.3:c.2474T>G , LRG_398t1:c.2474T>G	NP_004563.2:p.Ile825Ser
NM_001005242.3:c.2342T>G MANE Select	NP_001005242.2:p.Ile781Ser
NM_004572.4:c.2474T>G	NP_004563.2:p.Ile825Ser