Canonical Allele Identifier: CA6508300

Gene: PKP2

Linked Data

• dbSNP Id: rs762510904
• ExAC: 12:33021885 G / GA
• gnomAD v2: 12-33021885-G-GA
• gnomAD v4: 12-32868951-G-GA
• MyVariant Identifiers: chr12:g.33021885_33021886insA (hg19) ; chr12:g.32868951_32868952insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868953dup , CM000674.2:g.32868953dup	GRCh38
NC_000012.11:g.33021887dup , CM000674.1:g.33021887dup	GRCh37
NC_000012.10:g.32913154dup	NCBI36
NG_009000.1:g.32895dup , LRG_398:g.32895dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1145dup	ENSP00000515065.2:p.Gln383ProfsTer4
ENST00000700563.2:c.1145dup	ENSP00000515066.2:p.Gln383ProfsTer4
ENST00000700559.1:c.360dup
ENST00000700560.1:n.360dup
ENST00000700561.1:n.486dup
ENST00000700563.1:c.1099dup
ENST00000700564.1:n.1149dup
ENST00000700565.1:n.998dup
ENST00000070846.11:c.1145dup	ENSP00000070846.6:p.Gln383ProfsTer4
ENST00000340811.9:c.1145dup MANE Select	ENSP00000342800.5:p.Gln383ProfsTer4
ENST00000070846.10:c.1145dup	ENSP00000070846.6:p.Gln383ProfsTer4
ENST00000340811.8:c.1145dup	ENSP00000342800.4:p.Gln383ProfsTer4
ENST00000613243.1:c.1145dup	ENSP00000478295.1:p.Gln383ProfsTer4
NM_001005242.2:c.1145dup	NP_001005242.2:p.Gln383ProfsTer4
NM_004572.3:c.1145dup , LRG_398t1:c.1145dup	NP_004563.2:p.Gln383ProfsTer4
NM_001005242.3:c.1145dup MANE Select	NP_001005242.2:p.Gln383ProfsTer4
NM_004572.4:c.1145dup	NP_004563.2:p.Gln383ProfsTer4