Canonical Allele Identifier: CA6508284

Gene: PKP2

Linked Data

• dbSNP Id: rs749340546
• ExAC: 12:32955286 AT / A
• gnomAD v2: 12-32955286-AT-A
• gnomAD v4: 12-32802352-AT-A
• MyVariant Identifiers: chr12:g.32955287del (hg19) ; chr12:g.32802353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802354del , CM000674.2:g.32802354del	GRCh38
NC_000012.11:g.32955288del , CM000674.1:g.32955288del	GRCh37
NC_000012.10:g.32846555del	NCBI36
NG_009000.1:g.99494del , LRG_398:g.99494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+50del
ENST00000700557.2:n.259+50del
ENST00000700559.2:c.2167+50del	ENSP00000515065.2:n.2167+50del
ENST00000546498.2:n.854+50del
ENST00000549461.2:n.659+97del
ENST00000700555.1:c.598+50del	ENSP00000515062.1:n.598+50del
ENST00000700556.1:c.638+50del
ENST00000700557.1:c.178+50del	ENSP00000515064.1:n.178+50del
ENST00000700558.1:n.381+50del
ENST00000700559.1:c.1382+50del
ENST00000700560.1:n.1382+50del
ENST00000700561.1:n.1508+50del
ENST00000070846.11:c.2299+50del	ENSP00000070846.6:n.2299+50del
ENST00000340811.9:c.2167+50del MANE Select	ENSP00000342800.5:n.2167+50del
ENST00000070846.10:c.2299+50del	ENSP00000070846.6:n.2299+50del
ENST00000340811.8:c.2167+50del	ENSP00000342800.4:n.2167+50del
ENST00000613243.1:c.2299+50del	ENSP00000478295.1:n.2299+50del
NM_001005242.2:c.2167+50del	NP_001005242.2:n.2167+50del
NM_004572.3:c.2299+50del , LRG_398t1:c.2299+50del	NP_004563.2:n.2299+50del
NM_001005242.3:c.2167+50del MANE Select	NP_001005242.2:n.2167+50del
NM_004572.4:c.2299+50del	NP_004563.2:n.2299+50del