Canonical Allele Identifier: CA604223379

Gene: PKP2

Linked Data

• dbSNP Id: rs1565574788
• gnomAD v2: 12-32955467-TG-T
• gnomAD v3: 12-32802533-TG-T
• gnomAD v4: 12-32802533-TG-T
• MyVariant Identifiers: chr12:g.32955468del (hg19) ; chr12:g.32802534del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802534del , CM000674.2:g.32802534del	GRCh38
NC_000012.11:g.32955468del , CM000674.1:g.32955468del	GRCh37
NC_000012.10:g.32846735del	NCBI36
NG_009000.1:g.99313del , LRG_398:g.99313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.539del
ENST00000700557.2:n.128del
ENST00000700559.2:c.2036del	ENSP00000515065.2:p.Thr679LysfsTer23
ENST00000546498.2:n.723del
ENST00000549461.2:n.575del
ENST00000700555.1:c.467del	ENSP00000515062.1:p.Thr156LysfsTer23
ENST00000700556.1:c.507del
ENST00000700557.1:c.47del	ENSP00000515064.1:p.Thr16LysfsTer23
ENST00000700558.1:n.250del
ENST00000700559.1:c.1251del
ENST00000700560.1:n.1251del
ENST00000700561.1:n.1377del
ENST00000070846.11:c.2168del	ENSP00000070846.6:p.Thr723LysfsTer23
ENST00000340811.9:c.2036del MANE Select	ENSP00000342800.5:p.Thr679LysfsTer23
ENST00000070846.10:c.2168del	ENSP00000070846.6:p.Thr723LysfsTer23
ENST00000340811.8:c.2036del	ENSP00000342800.4:p.Thr679LysfsTer23
ENST00000549461.1:n.482del
ENST00000613243.1:c.2168del	ENSP00000478295.1:p.Thr723LysfsTer23
NM_001005242.2:c.2036del	NP_001005242.2:p.Thr679LysfsTer23
NM_004572.3:c.2168del , LRG_398t1:c.2168del	NP_004563.2:p.Thr723LysfsTer23
NM_001005242.3:c.2036del MANE Select	NP_001005242.2:p.Thr679LysfsTer23
NM_004572.4:c.2168del	NP_004563.2:p.Thr723LysfsTer23