Canonical Allele Identifier: CA235255358

Gene: PKP2

Linked Data

• dbSNP Id: rs946022100
• gnomAD v2: 12-33003821-C-T
• gnomAD v3: 12-32850887-C-T
• gnomAD v4: 12-32850887-C-T
• MyVariant Identifiers: chr12:g.33003821C>T (hg19) ; chr12:g.32850887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850887C>T , CM000674.2:g.32850887C>T	GRCh38
NC_000012.11:g.33003821C>T , CM000674.1:g.33003821C>T	GRCh37
NC_000012.10:g.32895088C>T	NCBI36
NG_009000.1:g.50960G>A , LRG_398:g.50960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1257G>A	ENSP00000515065.2:p.Leu419=
ENST00000700563.2:c.1257G>A	ENSP00000515066.2:p.Leu419=
ENST00000700559.1:c.472G>A
ENST00000700560.1:n.472G>A
ENST00000700561.1:n.598G>A
ENST00000700563.1:c.1211G>A
ENST00000700564.1:n.1261G>A
ENST00000700565.1:n.1110G>A
ENST00000070846.11:c.1257G>A	ENSP00000070846.6:p.Leu419=
ENST00000340811.9:c.1257G>A MANE Select	ENSP00000342800.5:p.Leu419=
ENST00000070846.10:c.1257G>A	ENSP00000070846.6:p.Leu419=
ENST00000340811.8:c.1257G>A	ENSP00000342800.4:p.Leu419=
ENST00000613243.1:c.1257G>A	ENSP00000478295.1:p.Leu419=
NM_001005242.2:c.1257G>A	NP_001005242.2:p.Leu419=
NM_004572.3:c.1257G>A , LRG_398t1:c.1257G>A	NP_004563.2:p.Leu419=
NM_001005242.3:c.1257G>A MANE Select	NP_001005242.2:p.Leu419=
NM_004572.4:c.1257G>A	NP_004563.2:p.Leu419=