Canonical Allele Identifier: CA384364626

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32977008T>A (hg19) ; chr12:g.32824074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824074T>A , CM000674.2:g.32824074T>A	GRCh38
NC_000012.11:g.32977008T>A , CM000674.1:g.32977008T>A	GRCh37
NC_000012.10:g.32868275T>A	NCBI36
NG_009000.1:g.77773A>T , LRG_398:g.77773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.157A>T
ENST00000700559.2:c.1645A>T	ENSP00000515065.2:p.Thr549Ser
ENST00000700563.2:c.1645A>T	ENSP00000515066.2:p.Thr549Ser
ENST00000546498.2:n.332A>T
ENST00000700555.1:c.85A>T	ENSP00000515062.1:p.Thr29Ser
ENST00000700556.1:c.116A>T
ENST00000700559.1:c.860A>T
ENST00000700560.1:n.860A>T
ENST00000700561.1:n.986A>T
ENST00000700563.1:c.1599A>T
ENST00000700564.1:n.1649A>T
ENST00000070846.11:c.1777A>T	ENSP00000070846.6:p.Thr593Ser
ENST00000340811.9:c.1645A>T MANE Select	ENSP00000342800.5:p.Thr549Ser
ENST00000070846.10:c.1777A>T	ENSP00000070846.6:p.Thr593Ser
ENST00000340811.8:c.1645A>T	ENSP00000342800.4:p.Thr549Ser
ENST00000546498.1:n.332A>T
ENST00000552612.5:n.66A>T
ENST00000613243.1:c.1777A>T	ENSP00000478295.1:p.Thr593Ser
NM_001005242.2:c.1645A>T	NP_001005242.2:p.Thr549Ser
NM_004572.3:c.1777A>T , LRG_398t1:c.1777A>T	NP_004563.2:p.Thr593Ser
NM_001005242.3:c.1645A>T MANE Select	NP_001005242.2:p.Thr549Ser
NM_004572.4:c.1777A>T	NP_004563.2:p.Thr593Ser