Canonical Allele Identifier: CA384362213

Gene: PKP2

Linked Data

• dbSNP Id: rs746310911
• MyVariant Identifiers: chr12:g.32974423G>A (hg19) ; chr12:g.32821489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821489G>A , CM000674.2:g.32821489G>A	GRCh38
NC_000012.11:g.32974423G>A , CM000674.1:g.32974423G>A	GRCh37
NC_000012.10:g.32865690G>A	NCBI36
NG_009000.1:g.80358C>T , LRG_398:g.80358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.383C>T
ENST00000700559.2:c.1880C>T	ENSP00000515065.2:p.Pro627Leu
ENST00000700563.2:c.1880C>T	ENSP00000515066.2:p.Pro627Leu
ENST00000546498.2:n.567C>T
ENST00000549461.2:n.419C>T
ENST00000700555.1:c.311C>T	ENSP00000515062.1:p.Pro104Leu
ENST00000700556.1:c.351C>T
ENST00000700558.1:n.94C>T
ENST00000700559.1:c.1095C>T
ENST00000700560.1:n.1095C>T
ENST00000700561.1:n.1221C>T
ENST00000700562.1:n.418C>T
ENST00000700563.1:c.1834C>T
ENST00000700564.1:n.1884C>T
ENST00000070846.11:c.2012C>T	ENSP00000070846.6:p.Pro671Leu
ENST00000340811.9:c.1880C>T MANE Select	ENSP00000342800.5:p.Pro627Leu
ENST00000070846.10:c.2012C>T	ENSP00000070846.6:p.Pro671Leu
ENST00000340811.8:c.1880C>T	ENSP00000342800.4:p.Pro627Leu
ENST00000546498.1:n.567C>T
ENST00000549461.1:n.326C>T
ENST00000552612.5:n.301C>T
ENST00000613243.1:c.2012C>T	ENSP00000478295.1:p.Pro671Leu
NM_001005242.2:c.1880C>T	NP_001005242.2:p.Pro627Leu
NM_004572.3:c.2012C>T , LRG_398t1:c.2012C>T	NP_004563.2:p.Pro671Leu
NM_001005242.3:c.1880C>T MANE Select	NP_001005242.2:p.Pro627Leu
NM_004572.4:c.2012C>T	NP_004563.2:p.Pro671Leu