Canonical Allele Identifier: CA384359768
Gene: PKP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802484C>A , CM000674.2:g.32802484C>A GRCh38
NC_000012.11:g.32955418C>A , CM000674.1:g.32955418C>A GRCh37
NC_000012.10:g.32846685C>A NCBI36
NG_009000.1:g.99363G>T , LRG_398:g.99363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.589G>T
ENST00000700557.2:n.178G>T
ENST00000700559.2:c.2086G>T ENSP00000515065.2:p.Val696Phe
ENST00000546498.2:n.773G>T
ENST00000549461.2:n.625G>T
ENST00000700555.1:c.517G>T ENSP00000515062.1:p.Val173Phe
ENST00000700556.1:c.557G>T
ENST00000700557.1:c.97G>T ENSP00000515064.1:p.Val33Phe
ENST00000700558.1:n.300G>T
ENST00000700559.1:c.1301G>T
ENST00000700560.1:n.1301G>T
ENST00000700561.1:n.1427G>T
ENST00000070846.11:c.2218G>T ENSP00000070846.6:p.Val740Phe
ENST00000340811.9:c.2086G>T MANE Select ENSP00000342800.5:p.Val696Phe
ENST00000070846.10:c.2218G>T ENSP00000070846.6:p.Val740Phe
ENST00000340811.8:c.2086G>T ENSP00000342800.4:p.Val696Phe
ENST00000549461.1:n.532G>T
ENST00000613243.1:c.2218G>T ENSP00000478295.1:p.Val740Phe
NM_001005242.2:c.2086G>T NP_001005242.2:p.Val696Phe
NM_004572.3:c.2218G>T , LRG_398t1:c.2218G>T NP_004563.2:p.Val740Phe
NM_001005242.3:c.2086G>T MANE Select NP_001005242.2:p.Val696Phe
NM_004572.4:c.2218G>T NP_004563.2:p.Val740Phe