Canonical Allele Identifier: CA011831

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802449C>T , CM000674.2:g.32802449C>T	GRCh38
NC_000012.11:g.32955383C>T , CM000674.1:g.32955383C>T	GRCh37
NC_000012.10:g.32846650C>T	NCBI36
NG_009000.1:g.99398G>A , LRG_398:g.99398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.624G>A
ENST00000700557.2:n.213G>A
ENST00000700559.2:c.2121G>A	ENSP00000515065.2:p.Ser707=
ENST00000546498.2:n.808G>A
ENST00000549461.2:n.659+1G>A
ENST00000700555.1:c.552G>A	ENSP00000515062.1:p.Ser184=
ENST00000700556.1:c.592G>A
ENST00000700557.1:c.132G>A	ENSP00000515064.1:p.Ser44=
ENST00000700558.1:n.335G>A
ENST00000700559.1:c.1336G>A
ENST00000700560.1:n.1336G>A
ENST00000700561.1:n.1462G>A
ENST00000070846.11:c.2253G>A	ENSP00000070846.6:p.Ser751=
ENST00000340811.9:c.2121G>A MANE Select	ENSP00000342800.5:p.Ser707=
ENST00000070846.10:c.2253G>A	ENSP00000070846.6:p.Ser751=
ENST00000340811.8:c.2121G>A	ENSP00000342800.4:p.Ser707=
ENST00000613243.1:c.2253G>A	ENSP00000478295.1:p.Ser751=
NM_001005242.2:c.2121G>A	NP_001005242.2:p.Ser707=
NM_004572.3:c.2253G>A , LRG_398t1:c.2253G>A	NP_004563.2:p.Ser751=
NM_001005242.3:c.2121G>A MANE Select	NP_001005242.2:p.Ser707=
NM_004572.4:c.2253G>A	NP_004563.2:p.Ser751=