Canonical Allele Identifier: CA687414463

Gene: PKP2

Linked Data

• dbSNP Id: rs1488928911
• gnomAD v3: 12-32878899-T-TTA
• gnomAD v4: 12-32878899-T-TTA
• MyVariant Identifiers: chr12:g.33031833_33031834insTA (hg19) ; chr12:g.32878899_32878900insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878900_32878901dup , CM000674.2:g.32878900_32878901dup	GRCh38
NC_000012.11:g.33031834_33031835dup , CM000674.1:g.33031834_33031835dup	GRCh37
NC_000012.10:g.32923101_32923102dup	NCBI36
NG_009000.1:g.22946_22947dup , LRG_398:g.22946_22947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.336+19_336+20dup	ENSP00000515065.2:n.336+19_336+20dup
ENST00000700563.2:c.336+19_336+20dup	ENSP00000515066.2:n.336+19_336+20dup
ENST00000700563.1:c.290+19_290+20dup
ENST00000700564.1:n.340+19_340+20dup
ENST00000700565.1:n.189+19_189+20dup
ENST00000070846.11:c.336+19_336+20dup	ENSP00000070846.6:n.336+19_336+20dup
ENST00000340811.9:c.336+19_336+20dup MANE Select	ENSP00000342800.5:n.336+19_336+20dup
ENST00000070846.10:c.336+19_336+20dup	ENSP00000070846.6:n.336+19_336+20dup
ENST00000340811.8:c.336+19_336+20dup	ENSP00000342800.4:n.336+19_336+20dup
ENST00000613243.1:c.336+19_336+20dup	ENSP00000478295.1:n.336+19_336+20dup
NM_001005242.2:c.336+19_336+20dup	NP_001005242.2:n.336+19_336+20dup
NM_004572.3:c.336+19_336+20dup , LRG_398t1:c.336+19_336+20dup	NP_004563.2:n.336+19_336+20dup
NM_001005242.3:c.336+19_336+20dup MANE Select	NP_001005242.2:n.336+19_336+20dup
NM_004572.4:c.336+19_336+20dup	NP_004563.2:n.336+19_336+20dup