Canonical Allele Identifier: CA384370277

Gene: PKP2

Linked Data

• dbSNP Id: rs1164276244
• gnomAD v2: 12-33003806-A-C
• gnomAD v4: 12-32850872-A-C
• MyVariant Identifiers: chr12:g.33003806A>C (hg19) ; chr12:g.32850872A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850872A>C , CM000674.2:g.32850872A>C	GRCh38
NC_000012.11:g.33003806A>C , CM000674.1:g.33003806A>C	GRCh37
NC_000012.10:g.32895073A>C	NCBI36
NG_009000.1:g.50975T>G , LRG_398:g.50975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1272T>G	ENSP00000515065.2:p.Phe424Leu
ENST00000700563.2:c.1272T>G	ENSP00000515066.2:p.Phe424Leu
ENST00000700559.1:c.487T>G
ENST00000700560.1:n.487T>G
ENST00000700561.1:n.613T>G
ENST00000700563.1:c.1226T>G
ENST00000700564.1:n.1276T>G
ENST00000700565.1:n.1125T>G
ENST00000070846.11:c.1272T>G	ENSP00000070846.6:p.Phe424Leu
ENST00000340811.9:c.1272T>G MANE Select	ENSP00000342800.5:p.Phe424Leu
ENST00000070846.10:c.1272T>G	ENSP00000070846.6:p.Phe424Leu
ENST00000340811.8:c.1272T>G	ENSP00000342800.4:p.Phe424Leu
ENST00000613243.1:c.1272T>G	ENSP00000478295.1:p.Phe424Leu
NM_001005242.2:c.1272T>G	NP_001005242.2:p.Phe424Leu
NM_004572.3:c.1272T>G , LRG_398t1:c.1272T>G	NP_004563.2:p.Phe424Leu
NM_001005242.3:c.1272T>G MANE Select	NP_001005242.2:p.Phe424Leu
NM_004572.4:c.1272T>G	NP_004563.2:p.Phe424Leu