Canonical Allele Identifier: CA384359146

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802403-C-T
• MyVariant Identifiers: chr12:g.32955337C>T (hg19) ; chr12:g.32802403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802403C>T , CM000674.2:g.32802403C>T	GRCh38
NC_000012.11:g.32955337C>T , CM000674.1:g.32955337C>T	GRCh37
NC_000012.10:g.32846604C>T	NCBI36
NG_009000.1:g.99444G>A , LRG_398:g.99444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670G>A
ENST00000700557.2:n.259G>A
ENST00000700559.2:c.2167G>A	ENSP00000515065.2:p.Ala723Thr
ENST00000546498.2:n.854G>A
ENST00000549461.2:n.659+47G>A
ENST00000700555.1:c.598G>A	ENSP00000515062.1:p.Ala200Thr
ENST00000700556.1:c.638G>A
ENST00000700557.1:c.178G>A	ENSP00000515064.1:p.Ala60Thr
ENST00000700558.1:n.381G>A
ENST00000700559.1:c.1382G>A
ENST00000700560.1:n.1382G>A
ENST00000700561.1:n.1508G>A
ENST00000070846.11:c.2299G>A	ENSP00000070846.6:p.Ala767Thr
ENST00000340811.9:c.2167G>A MANE Select	ENSP00000342800.5:p.Ala723Thr
ENST00000070846.10:c.2299G>A	ENSP00000070846.6:p.Ala767Thr
ENST00000340811.8:c.2167G>A	ENSP00000342800.4:p.Ala723Thr
ENST00000613243.1:c.2299G>A	ENSP00000478295.1:p.Ala767Thr
NM_001005242.2:c.2167G>A	NP_001005242.2:p.Ala723Thr
NM_004572.3:c.2299G>A , LRG_398t1:c.2299G>A	NP_004563.2:p.Ala767Thr
NM_001005242.3:c.2167G>A MANE Select	NP_001005242.2:p.Ala723Thr
NM_004572.4:c.2299G>A	NP_004563.2:p.Ala767Thr