Canonical Allele Identifier: CA038633

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878131C>A , CM000674.2:g.32878131C>A	GRCh38
NC_000012.11:g.33031065C>A , CM000674.1:g.33031065C>A	GRCh37
NC_000012.10:g.32922332C>A	NCBI36
NG_009000.1:g.23716G>T , LRG_398:g.23716G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.749G>T MANE Select	NP_001005242.2:p.Arg250Leu
ENST00000340811.9:c.749G>T MANE Select	ENSP00000342800.5:p.Arg250Leu
NM_001005242.2:c.749G>T	NP_001005242.2:p.Arg250Leu
NM_004572.3:c.749G>T , LRG_398t1:c.749G>T	NP_004563.2:p.Arg250Leu
NM_004572.4:c.749G>T	NP_004563.2:p.Arg250Leu
ENST00000070846.10:c.749G>T	ENSP00000070846.6:p.Arg250Leu
ENST00000070846.11:c.749G>T	ENSP00000070846.6:p.Arg250Leu
ENST00000340811.8:c.749G>T	ENSP00000342800.4:p.Arg250Leu
ENST00000613243.1:c.749G>T	ENSP00000478295.1:p.Arg250Leu
ENST00000700559.2:c.749G>T	ENSP00000515065.2:p.Arg250Leu
ENST00000700561.1:n.90G>T
ENST00000700563.1:c.703G>T
ENST00000700563.2:c.749G>T	ENSP00000515066.2:p.Arg250Leu
ENST00000700564.1:n.753G>T
ENST00000700565.1:n.602G>T