Canonical Allele Identifier: CA010659

Gene: PKP2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821439A>G , CM000674.2:g.32821439A>G	GRCh38
NC_000012.11:g.32974373A>G , CM000674.1:g.32974373A>G	GRCh37
NC_000012.10:g.32865640A>G	NCBI36
NG_009000.1:g.80408T>C , LRG_398:g.80408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.433T>C
ENST00000700559.2:c.1930T>C	ENSP00000515065.2:p.Ser644Pro
ENST00000700563.2:c.1930T>C	ENSP00000515066.2:p.Ser644Pro
ENST00000546498.2:n.617T>C
ENST00000549461.2:n.469T>C
ENST00000700555.1:c.361T>C	ENSP00000515062.1:p.Ser121Pro
ENST00000700556.1:c.401T>C
ENST00000700558.1:n.144T>C
ENST00000700559.1:c.1145T>C
ENST00000700560.1:n.1145T>C
ENST00000700561.1:n.1271T>C
ENST00000700562.1:n.468T>C
ENST00000700563.1:c.1884T>C
ENST00000700564.1:n.1934T>C
ENST00000070846.11:c.2062T>C	ENSP00000070846.6:p.Ser688Pro
ENST00000340811.9:c.1930T>C MANE Select	ENSP00000342800.5:p.Ser644Pro
ENST00000070846.10:c.2062T>C	ENSP00000070846.6:p.Ser688Pro
ENST00000340811.8:c.1930T>C	ENSP00000342800.4:p.Ser644Pro
ENST00000549461.1:n.376T>C
ENST00000552612.5:n.351T>C
ENST00000613243.1:c.2062T>C	ENSP00000478295.1:p.Ser688Pro
NM_001005242.2:c.1930T>C	NP_001005242.2:p.Ser644Pro
NM_004572.3:c.2062T>C , LRG_398t1:c.2062T>C	NP_004563.2:p.Ser688Pro
NM_001005242.3:c.1930T>C MANE Select	NP_001005242.2:p.Ser644Pro
NM_004572.4:c.2062T>C	NP_004563.2:p.Ser688Pro