Canonical Allele Identifier: CA384359768

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955418C>A (hg19) ; chr12:g.32802484C>A (hg38)

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