Canonical Allele Identifier: CA384364751

Gene: PKP2

Linked Data

• dbSNP Id: rs146102241
• MyVariant Identifiers: chr12:g.32977026C>G (hg19) ; chr12:g.32824092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824092C>G , CM000674.2:g.32824092C>G	GRCh38
NC_000012.11:g.32977026C>G , CM000674.1:g.32977026C>G	GRCh37
NC_000012.10:g.32868293C>G	NCBI36
NG_009000.1:g.77755G>C , LRG_398:g.77755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.139G>C
ENST00000700559.2:c.1627G>C	ENSP00000515065.2:p.Val543Leu
ENST00000700563.2:c.1627G>C	ENSP00000515066.2:p.Val543Leu
ENST00000546498.2:n.314G>C
ENST00000700555.1:c.67G>C	ENSP00000515062.1:p.Val23Leu
ENST00000700556.1:c.98G>C
ENST00000700559.1:c.842G>C
ENST00000700560.1:n.842G>C
ENST00000700561.1:n.968G>C
ENST00000700563.1:c.1581G>C
ENST00000700564.1:n.1631G>C
ENST00000070846.11:c.1759G>C	ENSP00000070846.6:p.Val587Leu
ENST00000340811.9:c.1627G>C MANE Select	ENSP00000342800.5:p.Val543Leu
ENST00000070846.10:c.1759G>C	ENSP00000070846.6:p.Val587Leu
ENST00000340811.8:c.1627G>C	ENSP00000342800.4:p.Val543Leu
ENST00000546498.1:n.314G>C
ENST00000552612.5:n.48G>C
ENST00000613243.1:c.1759G>C	ENSP00000478295.1:p.Val587Leu
NM_001005242.2:c.1627G>C	NP_001005242.2:p.Val543Leu
NM_004572.3:c.1759G>C , LRG_398t1:c.1759G>C	NP_004563.2:p.Val587Leu
NM_001005242.3:c.1627G>C MANE Select	NP_001005242.2:p.Val543Leu
NM_004572.4:c.1759G>C	NP_004563.2:p.Val587Leu