Canonical Allele Identifier: CA384370519

Gene: PKP2

Linked Data

• dbSNP Id: rs794729104
• gnomAD v4: 12-32850896-A-C
• MyVariant Identifiers: chr12:g.33003830A>C (hg19) ; chr12:g.32850896A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850896A>C , CM000674.2:g.32850896A>C	GRCh38
NC_000012.11:g.33003830A>C , CM000674.1:g.33003830A>C	GRCh37
NC_000012.10:g.32895097A>C	NCBI36
NG_009000.1:g.50951T>G , LRG_398:g.50951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1248T>G	ENSP00000515065.2:p.Cys416Trp
ENST00000700563.2:c.1248T>G	ENSP00000515066.2:p.Cys416Trp
ENST00000700559.1:c.463T>G
ENST00000700560.1:n.463T>G
ENST00000700561.1:n.589T>G
ENST00000700563.1:c.1202T>G
ENST00000700564.1:n.1252T>G
ENST00000700565.1:n.1101T>G
ENST00000070846.11:c.1248T>G	ENSP00000070846.6:p.Cys416Trp
ENST00000340811.9:c.1248T>G MANE Select	ENSP00000342800.5:p.Cys416Trp
ENST00000070846.10:c.1248T>G	ENSP00000070846.6:p.Cys416Trp
ENST00000340811.8:c.1248T>G	ENSP00000342800.4:p.Cys416Trp
ENST00000613243.1:c.1248T>G	ENSP00000478295.1:p.Cys416Trp
NM_001005242.2:c.1248T>G	NP_001005242.2:p.Cys416Trp
NM_004572.3:c.1248T>G , LRG_398t1:c.1248T>G	NP_004563.2:p.Cys416Trp
NM_001005242.3:c.1248T>G MANE Select	NP_001005242.2:p.Cys416Trp
NM_004572.4:c.1248T>G	NP_004563.2:p.Cys416Trp