Canonical Allele Identifier: CA384360080

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955488C>A (hg19) ; chr12:g.32802554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802554C>A , CM000674.2:g.32802554C>A	GRCh38
NC_000012.11:g.32955488C>A , CM000674.1:g.32955488C>A	GRCh37
NC_000012.10:g.32846755C>A	NCBI36
NG_009000.1:g.99293G>T , LRG_398:g.99293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.519G>T
ENST00000700557.2:n.108G>T
ENST00000700559.2:c.2016G>T	ENSP00000515065.2:p.Met672Ile
ENST00000546498.2:n.703G>T
ENST00000549461.2:n.555G>T
ENST00000700555.1:c.447G>T	ENSP00000515062.1:p.Met149Ile
ENST00000700556.1:c.487G>T
ENST00000700557.1:c.27G>T	ENSP00000515064.1:p.Met9Ile
ENST00000700558.1:n.230G>T
ENST00000700559.1:c.1231G>T
ENST00000700560.1:n.1231G>T
ENST00000700561.1:n.1357G>T
ENST00000070846.11:c.2148G>T	ENSP00000070846.6:p.Met716Ile
ENST00000340811.9:c.2016G>T MANE Select	ENSP00000342800.5:p.Met672Ile
ENST00000070846.10:c.2148G>T	ENSP00000070846.6:p.Met716Ile
ENST00000340811.8:c.2016G>T	ENSP00000342800.4:p.Met672Ile
ENST00000549461.1:n.462G>T
ENST00000613243.1:c.2148G>T	ENSP00000478295.1:p.Met716Ile
NM_001005242.2:c.2016G>T	NP_001005242.2:p.Met672Ile
NM_004572.3:c.2148G>T , LRG_398t1:c.2148G>T	NP_004563.2:p.Met716Ile
NM_001005242.3:c.2016G>T MANE Select	NP_001005242.2:p.Met672Ile
NM_004572.4:c.2148G>T	NP_004563.2:p.Met716Ile