Canonical Allele Identifier: CA2594400884

Gene: PKP2

Linked Data

• dbSNP Id: rs2137864153
• gnomAD v3: 12-32851207-T-C
• gnomAD v4: 12-32851207-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851207T>C , CM000674.2:g.32851207T>C	GRCh38
NC_000012.11:g.33004141T>C , CM000674.1:g.33004141T>C	GRCh37
NC_000012.10:g.32895408T>C	NCBI36
NG_009000.1:g.50640A>G , LRG_398:g.50640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-234A>G	ENSP00000515065.2:n.1171-234A>G
ENST00000700563.2:c.1171-234A>G	ENSP00000515066.2:n.1171-234A>G
ENST00000700559.1:c.386-234A>G
ENST00000700560.1:n.386-234A>G
ENST00000700561.1:n.512-234A>G
ENST00000700563.1:c.1125-234A>G
ENST00000700564.1:n.1175-234A>G
ENST00000700565.1:n.1024-234A>G
ENST00000070846.11:c.1171-234A>G	ENSP00000070846.6:n.1171-234A>G
ENST00000340811.9:c.1171-234A>G MANE Select	ENSP00000342800.5:n.1171-234A>G
ENST00000070846.10:c.1171-234A>G	ENSP00000070846.6:n.1171-234A>G
ENST00000340811.8:c.1171-234A>G	ENSP00000342800.4:n.1171-234A>G
ENST00000613243.1:c.1171-234A>G	ENSP00000478295.1:n.1171-234A>G
NM_001005242.2:c.1171-234A>G	NP_001005242.2:n.1171-234A>G
NM_004572.3:c.1171-234A>G , LRG_398t1:c.1171-234A>G	NP_004563.2:n.1171-234A>G
NM_001005242.3:c.1171-234A>G MANE Select	NP_001005242.2:n.1171-234A>G
NM_004572.4:c.1171-234A>G	NP_004563.2:n.1171-234A>G