Canonical Allele Identifier: CA035424

Gene: PKP2

Linked Data

• dbSNP Id: rs745712193
• ExAC: 12:32949021 C / T
• gnomAD v2: 12-32949021-C-T
• gnomAD v3: 12-32796087-C-T
• gnomAD v4: 12-32796087-C-T
• MyVariant Identifiers: chr12:g.32949021C>T (hg19) ; chr12:g.32796087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796087C>T , CM000674.2:g.32796087C>T	GRCh38
NC_000012.11:g.32949021C>T , CM000674.1:g.32949021C>T	GRCh37
NC_000012.10:g.32840288C>T	NCBI36
NG_009000.1:g.105760G>A , LRG_398:g.105760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+22G>A
ENST00000700557.2:n.449+22G>A
ENST00000700559.2:c.2168-3356G>A	ENSP00000515065.2:n.2168-3356G>A
ENST00000546498.2:n.1044+22G>A
ENST00000549461.2:n.849+22G>A
ENST00000700555.1:c.788+22G>A	ENSP00000515062.1:n.788+22G>A
ENST00000700556.1:c.828+22G>A
ENST00000700557.1:c.368+22G>A	ENSP00000515064.1:n.368+22G>A
ENST00000700558.1:n.571+22G>A
ENST00000700559.1:c.1383-3356G>A
ENST00000700560.1:n.1572+22G>A
ENST00000700561.1:n.1720G>A
ENST00000070846.11:c.2489+22G>A	ENSP00000070846.6:n.2489+22G>A
ENST00000340811.9:c.2357+22G>A MANE Select	ENSP00000342800.5:n.2357+22G>A
ENST00000070846.10:c.2489+22G>A	ENSP00000070846.6:n.2489+22G>A
ENST00000340811.8:c.2357+22G>A	ENSP00000342800.4:n.2357+22G>A
ENST00000613243.1:c.2487+22G>A	ENSP00000478295.1:n.2487+22G>A
NM_001005242.2:c.2357+22G>A	NP_001005242.2:n.2357+22G>A
NM_004572.3:c.2489+22G>A , LRG_398t1:c.2489+22G>A	NP_004563.2:n.2489+22G>A
NM_001005242.3:c.2357+22G>A MANE Select	NP_001005242.2:n.2357+22G>A
NM_004572.4:c.2489+22G>A	NP_004563.2:n.2489+22G>A