Canonical Allele Identifier: CA384357951

Gene: PKP2

Linked Data

• dbSNP Id: rs1238645380
• gnomAD v2: 12-32949220-A-G
• gnomAD v4: 12-32796286-A-G
• MyVariant Identifiers: chr12:g.32949220A>G (hg19) ; chr12:g.32796286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796286A>G , CM000674.2:g.32796286A>G	GRCh38
NC_000012.11:g.32949220A>G , CM000674.1:g.32949220A>G	GRCh37
NC_000012.10:g.32840487A>G	NCBI36
NG_009000.1:g.105561T>C , LRG_398:g.105561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.683T>C
ENST00000700557.2:n.272T>C
ENST00000700559.2:c.2168-3555T>C	ENSP00000515065.2:n.2168-3555T>C
ENST00000546498.2:n.867T>C
ENST00000549461.2:n.672T>C
ENST00000700555.1:c.611T>C	ENSP00000515062.1:p.Leu204Pro
ENST00000700556.1:c.651T>C
ENST00000700557.1:c.191T>C	ENSP00000515064.1:p.Leu64Pro
ENST00000700558.1:n.394T>C
ENST00000700559.1:c.1383-3555T>C
ENST00000700560.1:n.1395T>C
ENST00000700561.1:n.1521T>C
ENST00000070846.11:c.2312T>C	ENSP00000070846.6:p.Leu771Pro
ENST00000340811.9:c.2180T>C MANE Select	ENSP00000342800.5:p.Leu727Pro
ENST00000070846.10:c.2312T>C	ENSP00000070846.6:p.Leu771Pro
ENST00000340811.8:c.2180T>C	ENSP00000342800.4:p.Leu727Pro
ENST00000613243.1:c.2312T>C	ENSP00000478295.1:p.Leu771Pro
NM_001005242.2:c.2180T>C	NP_001005242.2:p.Leu727Pro
NM_004572.3:c.2312T>C , LRG_398t1:c.2312T>C	NP_004563.2:p.Leu771Pro
NM_001005242.3:c.2180T>C MANE Select	NP_001005242.2:p.Leu727Pro
NM_004572.4:c.2312T>C	NP_004563.2:p.Leu771Pro