Canonical Allele Identifier: CA384357921

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949206A>C (hg19) ; chr12:g.32796272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796272A>C , CM000674.2:g.32796272A>C	GRCh38
NC_000012.11:g.32949206A>C , CM000674.1:g.32949206A>C	GRCh37
NC_000012.10:g.32840473A>C	NCBI36
NG_009000.1:g.105575T>G , LRG_398:g.105575T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.697T>G
ENST00000700557.2:n.286T>G
ENST00000700559.2:c.2168-3541T>G	ENSP00000515065.2:n.2168-3541T>G
ENST00000546498.2:n.881T>G
ENST00000549461.2:n.686T>G
ENST00000700555.1:c.625T>G	ENSP00000515062.1:p.Ser209Ala
ENST00000700556.1:c.665T>G
ENST00000700557.1:c.205T>G	ENSP00000515064.1:p.Ser69Ala
ENST00000700558.1:n.408T>G
ENST00000700559.1:c.1383-3541T>G
ENST00000700560.1:n.1409T>G
ENST00000700561.1:n.1535T>G
ENST00000070846.11:c.2326T>G	ENSP00000070846.6:p.Ser776Ala
ENST00000340811.9:c.2194T>G MANE Select	ENSP00000342800.5:p.Ser732Ala
ENST00000070846.10:c.2326T>G	ENSP00000070846.6:p.Ser776Ala
ENST00000340811.8:c.2194T>G	ENSP00000342800.4:p.Ser732Ala
ENST00000613243.1:c.2326T>G	ENSP00000478295.1:p.Ser776Ala
NM_001005242.2:c.2194T>G	NP_001005242.2:p.Ser732Ala
NM_004572.3:c.2326T>G , LRG_398t1:c.2326T>G	NP_004563.2:p.Ser776Ala
NM_001005242.3:c.2194T>G MANE Select	NP_001005242.2:p.Ser732Ala
NM_004572.4:c.2326T>G	NP_004563.2:p.Ser776Ala