Canonical Allele Identifier: CA10637296

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308487
• ClinVar RCV Id: RCV000382702
• dbSNP Id: rs144110140
• gnomAD v2: 12-32944675-A-G
• gnomAD v3: 12-32791741-A-G
• gnomAD v4: 12-32791741-A-G
• MyVariant Identifiers: chr12:g.32944675A>G (hg19) ; chr12:g.32791741A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791741A>G , CM000674.2:g.32791741A>G	GRCh38
NC_000012.11:g.32944675A>G , CM000674.1:g.32944675A>G	GRCh37
NC_000012.10:g.32835942A>G	NCBI36
NG_009000.1:g.110106T>C , LRG_398:g.110106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1700T>C
ENST00000700557.2:n.1289T>C
ENST00000700559.2:c.*538T>C	ENSP00000515065.2:n.*538T>C
ENST00000549461.2:n.1689T>C
ENST00000700555.1:c.*683T>C	ENSP00000515062.1:n.*683T>C
ENST00000700556.1:c.1668T>C
ENST00000700557.1:c.*683T>C	ENSP00000515064.1:n.*683T>C
ENST00000700558.1:n.1411T>C
ENST00000070846.11:c.*683T>C	ENSP00000070846.6:n.*683T>C
ENST00000340811.9:c.*683T>C MANE Select	ENSP00000342800.5:n.*683T>C
ENST00000070846.10:c.*683T>C	ENSP00000070846.6:n.*683T>C
ENST00000340811.8:c.*683T>C	ENSP00000342800.4:n.*683T>C
NM_001005242.2:c.*683T>C	NP_001005242.2:n.*683T>C
NM_004572.3:c.*683T>C , LRG_398t1:c.*683T>C	NP_004563.2:n.*683T>C
NM_001005242.3:c.*683T>C MANE Select	NP_001005242.2:n.*683T>C
NM_004572.4:c.*683T>C	NP_004563.2:n.*683T>C