Canonical Allele Identifier: CA384357915

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796268-A-G
• MyVariant Identifiers: chr12:g.32949202A>G (hg19) ; chr12:g.32796268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796268A>G , CM000674.2:g.32796268A>G	GRCh38
NC_000012.11:g.32949202A>G , CM000674.1:g.32949202A>G	GRCh37
NC_000012.10:g.32840469A>G	NCBI36
NG_009000.1:g.105579T>C , LRG_398:g.105579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.701T>C
ENST00000700557.2:n.290T>C
ENST00000700559.2:c.2168-3537T>C	ENSP00000515065.2:n.2168-3537T>C
ENST00000546498.2:n.885T>C
ENST00000549461.2:n.690T>C
ENST00000700555.1:c.629T>C	ENSP00000515062.1:p.Ile210Thr
ENST00000700556.1:c.669T>C
ENST00000700557.1:c.209T>C	ENSP00000515064.1:p.Ile70Thr
ENST00000700558.1:n.412T>C
ENST00000700559.1:c.1383-3537T>C
ENST00000700560.1:n.1413T>C
ENST00000700561.1:n.1539T>C
ENST00000070846.11:c.2330T>C	ENSP00000070846.6:p.Ile777Thr
ENST00000340811.9:c.2198T>C MANE Select	ENSP00000342800.5:p.Ile733Thr
ENST00000070846.10:c.2330T>C	ENSP00000070846.6:p.Ile777Thr
ENST00000340811.8:c.2198T>C	ENSP00000342800.4:p.Ile733Thr
ENST00000613243.1:c.2330T>C	ENSP00000478295.1:p.Ile777Thr
NM_001005242.2:c.2198T>C	NP_001005242.2:p.Ile733Thr
NM_004572.3:c.2330T>C , LRG_398t1:c.2330T>C	NP_004563.2:p.Ile777Thr
NM_001005242.3:c.2198T>C MANE Select	NP_001005242.2:p.Ile733Thr
NM_004572.4:c.2330T>C	NP_004563.2:p.Ile777Thr