Canonical Allele Identifier: CA687467544

Gene: PKP2

Linked Data

• dbSNP Id: rs1201942081
• gnomAD v3: 12-32851218-A-G
• gnomAD v4: 12-32851218-A-G
• MyVariant Identifiers: chr12:g.33004152A>G (hg19) ; chr12:g.32851218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851218A>G , CM000674.2:g.32851218A>G	GRCh38
NC_000012.11:g.33004152A>G , CM000674.1:g.33004152A>G	GRCh37
NC_000012.10:g.32895419A>G	NCBI36
NG_009000.1:g.50629T>C , LRG_398:g.50629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-245T>C	ENSP00000515065.2:n.1171-245T>C
ENST00000700563.2:c.1171-245T>C	ENSP00000515066.2:n.1171-245T>C
ENST00000700559.1:c.386-245T>C
ENST00000700560.1:n.386-245T>C
ENST00000700561.1:n.512-245T>C
ENST00000700563.1:c.1125-245T>C
ENST00000700564.1:n.1175-245T>C
ENST00000700565.1:n.1024-245T>C
ENST00000070846.11:c.1171-245T>C	ENSP00000070846.6:n.1171-245T>C
ENST00000340811.9:c.1171-245T>C MANE Select	ENSP00000342800.5:n.1171-245T>C
ENST00000070846.10:c.1171-245T>C	ENSP00000070846.6:n.1171-245T>C
ENST00000340811.8:c.1171-245T>C	ENSP00000342800.4:n.1171-245T>C
ENST00000613243.1:c.1171-245T>C	ENSP00000478295.1:n.1171-245T>C
NM_001005242.2:c.1171-245T>C	NP_001005242.2:n.1171-245T>C
NM_004572.3:c.1171-245T>C , LRG_398t1:c.1171-245T>C	NP_004563.2:n.1171-245T>C
NM_001005242.3:c.1171-245T>C MANE Select	NP_001005242.2:n.1171-245T>C
NM_004572.4:c.1171-245T>C	NP_004563.2:n.1171-245T>C