Canonical Allele Identifier: CA384360085

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955489A>T (hg19) ; chr12:g.32802555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802555A>T , CM000674.2:g.32802555A>T	GRCh38
NC_000012.11:g.32955489A>T , CM000674.1:g.32955489A>T	GRCh37
NC_000012.10:g.32846756A>T	NCBI36
NG_009000.1:g.99292T>A , LRG_398:g.99292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.518T>A
ENST00000700557.2:n.107T>A
ENST00000700559.2:c.2015T>A	ENSP00000515065.2:p.Met672Lys
ENST00000546498.2:n.702T>A
ENST00000549461.2:n.554T>A
ENST00000700555.1:c.446T>A	ENSP00000515062.1:p.Met149Lys
ENST00000700556.1:c.486T>A
ENST00000700557.1:c.26T>A	ENSP00000515064.1:p.Met9Lys
ENST00000700558.1:n.229T>A
ENST00000700559.1:c.1230T>A
ENST00000700560.1:n.1230T>A
ENST00000700561.1:n.1356T>A
ENST00000070846.11:c.2147T>A	ENSP00000070846.6:p.Met716Lys
ENST00000340811.9:c.2015T>A MANE Select	ENSP00000342800.5:p.Met672Lys
ENST00000070846.10:c.2147T>A	ENSP00000070846.6:p.Met716Lys
ENST00000340811.8:c.2015T>A	ENSP00000342800.4:p.Met672Lys
ENST00000549461.1:n.461T>A
ENST00000613243.1:c.2147T>A	ENSP00000478295.1:p.Met716Lys
NM_001005242.2:c.2015T>A	NP_001005242.2:p.Met672Lys
NM_004572.3:c.2147T>A , LRG_398t1:c.2147T>A	NP_004563.2:p.Met716Lys
NM_001005242.3:c.2015T>A MANE Select	NP_001005242.2:p.Met672Lys
NM_004572.4:c.2147T>A	NP_004563.2:p.Met716Lys