Canonical Allele Identifier: CA011911

Gene: PKP2

Linked Data

• dbSNP Id: rs794729131
• gnomAD v2: 12-32949208-A-G
• gnomAD v4: 12-32796274-A-G
• MyVariant Identifiers: chr12:g.32949208A>G (hg19) ; chr12:g.32796274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796274A>G , CM000674.2:g.32796274A>G	GRCh38
NC_000012.11:g.32949208A>G , CM000674.1:g.32949208A>G	GRCh37
NC_000012.10:g.32840475A>G	NCBI36
NG_009000.1:g.105573T>C , LRG_398:g.105573T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.695T>C
ENST00000700557.2:n.284T>C
ENST00000700559.2:c.2168-3543T>C	ENSP00000515065.2:n.2168-3543T>C
ENST00000546498.2:n.879T>C
ENST00000549461.2:n.684T>C
ENST00000700555.1:c.623T>C	ENSP00000515062.1:p.Val208Ala
ENST00000700556.1:c.663T>C
ENST00000700557.1:c.203T>C	ENSP00000515064.1:p.Val68Ala
ENST00000700558.1:n.406T>C
ENST00000700559.1:c.1383-3543T>C
ENST00000700560.1:n.1407T>C
ENST00000700561.1:n.1533T>C
ENST00000070846.11:c.2324T>C	ENSP00000070846.6:p.Val775Ala
ENST00000340811.9:c.2192T>C MANE Select	ENSP00000342800.5:p.Val731Ala
ENST00000070846.10:c.2324T>C	ENSP00000070846.6:p.Val775Ala
ENST00000340811.8:c.2192T>C	ENSP00000342800.4:p.Val731Ala
ENST00000613243.1:c.2324T>C	ENSP00000478295.1:p.Val775Ala
NM_001005242.2:c.2192T>C	NP_001005242.2:p.Val731Ala
NM_004572.3:c.2324T>C , LRG_398t1:c.2324T>C	NP_004563.2:p.Val775Ala
NM_001005242.3:c.2192T>C MANE Select	NP_001005242.2:p.Val731Ala
NM_004572.4:c.2324T>C	NP_004563.2:p.Val775Ala