Canonical Allele Identifier: CA384357919

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949205G>C (hg19) ; chr12:g.32796271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796271G>C , CM000674.2:g.32796271G>C	GRCh38
NC_000012.11:g.32949205G>C , CM000674.1:g.32949205G>C	GRCh37
NC_000012.10:g.32840472G>C	NCBI36
NG_009000.1:g.105576C>G , LRG_398:g.105576C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.698C>G
ENST00000700557.2:n.287C>G
ENST00000700559.2:c.2168-3540C>G	ENSP00000515065.2:n.2168-3540C>G
ENST00000546498.2:n.882C>G
ENST00000549461.2:n.687C>G
ENST00000700555.1:c.626C>G	ENSP00000515062.1:p.Ser209Cys
ENST00000700556.1:c.666C>G
ENST00000700557.1:c.206C>G	ENSP00000515064.1:p.Ser69Cys
ENST00000700558.1:n.409C>G
ENST00000700559.1:c.1383-3540C>G
ENST00000700560.1:n.1410C>G
ENST00000700561.1:n.1536C>G
ENST00000070846.11:c.2327C>G	ENSP00000070846.6:p.Ser776Cys
ENST00000340811.9:c.2195C>G MANE Select	ENSP00000342800.5:p.Ser732Cys
ENST00000070846.10:c.2327C>G	ENSP00000070846.6:p.Ser776Cys
ENST00000340811.8:c.2195C>G	ENSP00000342800.4:p.Ser732Cys
ENST00000613243.1:c.2327C>G	ENSP00000478295.1:p.Ser776Cys
NM_001005242.2:c.2195C>G	NP_001005242.2:p.Ser732Cys
NM_004572.3:c.2327C>G , LRG_398t1:c.2327C>G	NP_004563.2:p.Ser776Cys
NM_001005242.3:c.2195C>G MANE Select	NP_001005242.2:p.Ser732Cys
NM_004572.4:c.2327C>G	NP_004563.2:p.Ser776Cys