Canonical Allele Identifier: CA604222284

Gene: PKP2

Linked Data

• dbSNP Id: rs1384659051
• gnomAD v2: 12-32949454-C-T
• gnomAD v3: 12-32796520-C-T
• gnomAD v4: 12-32796520-C-T
• MyVariant Identifiers: chr12:g.32949454C>T (hg19) ; chr12:g.32796520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796520C>T , CM000674.2:g.32796520C>T	GRCh38
NC_000012.11:g.32949454C>T , CM000674.1:g.32949454C>T	GRCh37
NC_000012.10:g.32840721C>T	NCBI36
NG_009000.1:g.105327G>A , LRG_398:g.105327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-222G>A
ENST00000700557.2:n.260-222G>A
ENST00000700559.2:c.2168-3789G>A	ENSP00000515065.2:n.2168-3789G>A
ENST00000546498.2:n.855-222G>A
ENST00000549461.2:n.660-222G>A
ENST00000700555.1:c.599-222G>A	ENSP00000515062.1:n.599-222G>A
ENST00000700556.1:c.639-222G>A
ENST00000700557.1:c.179-222G>A	ENSP00000515064.1:n.179-222G>A
ENST00000700558.1:n.382-222G>A
ENST00000700559.1:c.1383-3789G>A
ENST00000700560.1:n.1383-222G>A
ENST00000700561.1:n.1509-222G>A
ENST00000070846.11:c.2300-222G>A	ENSP00000070846.6:n.2300-222G>A
ENST00000340811.9:c.2168-222G>A MANE Select	ENSP00000342800.5:n.2168-222G>A
ENST00000070846.10:c.2300-222G>A	ENSP00000070846.6:n.2300-222G>A
ENST00000340811.8:c.2168-222G>A	ENSP00000342800.4:n.2168-222G>A
ENST00000613243.1:c.2300-222G>A	ENSP00000478295.1:n.2300-222G>A
NM_001005242.2:c.2168-222G>A	NP_001005242.2:n.2168-222G>A
NM_004572.3:c.2300-222G>A , LRG_398t1:c.2300-222G>A	NP_004563.2:n.2300-222G>A
NM_001005242.3:c.2168-222G>A MANE Select	NP_001005242.2:n.2168-222G>A
NM_004572.4:c.2300-222G>A	NP_004563.2:n.2300-222G>A