Canonical Allele Identifier: CA384357965

Gene: PKP2

Linked Data

• gnomAD v3: 12-32796293-C-A
• gnomAD v4: 12-32796293-C-A
• MyVariant Identifiers: chr12:g.32949227C>A (hg19) ; chr12:g.32796293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796293C>A , CM000674.2:g.32796293C>A	GRCh38
NC_000012.11:g.32949227C>A , CM000674.1:g.32949227C>A	GRCh37
NC_000012.10:g.32840494C>A	NCBI36
NG_009000.1:g.105554G>T , LRG_398:g.105554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.676G>T
ENST00000700557.2:n.265G>T
ENST00000700559.2:c.2168-3562G>T	ENSP00000515065.2:n.2168-3562G>T
ENST00000546498.2:n.860G>T
ENST00000549461.2:n.665G>T
ENST00000700555.1:c.604G>T	ENSP00000515062.1:p.Glu202Ter
ENST00000700556.1:c.644G>T
ENST00000700557.1:c.184G>T	ENSP00000515064.1:p.Glu62Ter
ENST00000700558.1:n.387G>T
ENST00000700559.1:c.1383-3562G>T
ENST00000700560.1:n.1388G>T
ENST00000700561.1:n.1514G>T
ENST00000070846.11:c.2305G>T	ENSP00000070846.6:p.Glu769Ter
ENST00000340811.9:c.2173G>T MANE Select	ENSP00000342800.5:p.Glu725Ter
ENST00000070846.10:c.2305G>T	ENSP00000070846.6:p.Glu769Ter
ENST00000340811.8:c.2173G>T	ENSP00000342800.4:p.Glu725Ter
ENST00000613243.1:c.2305G>T	ENSP00000478295.1:p.Glu769Ter
NM_001005242.2:c.2173G>T	NP_001005242.2:p.Glu725Ter
NM_004572.3:c.2305G>T , LRG_398t1:c.2305G>T	NP_004563.2:p.Glu769Ter
NM_001005242.3:c.2173G>T MANE Select	NP_001005242.2:p.Glu725Ter
NM_004572.4:c.2305G>T	NP_004563.2:p.Glu769Ter