Canonical Allele Identifier: CA10642003

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308497
• ClinVar RCV Id: RCV000300412 ; RCV001612977
• dbSNP Id: rs12612
• gnomAD v2: 12-32945107-G-C
• gnomAD v3: 12-32792173-G-C
• gnomAD v4: 12-32792173-G-C
• MyVariant Identifiers: chr12:g.32945107G>C (hg19) ; chr12:g.32792173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792173G>C , CM000674.2:g.32792173G>C	GRCh38
NC_000012.11:g.32945107G>C , CM000674.1:g.32945107G>C	GRCh37
NC_000012.10:g.32836374G>C	NCBI36
NG_009000.1:g.109674C>G , LRG_398:g.109674C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1268C>G
ENST00000700557.2:n.857C>G
ENST00000700559.2:c.*106C>G	ENSP00000515065.2:n.*106C>G
ENST00000546498.2:n.1452C>G
ENST00000549461.2:n.1257C>G
ENST00000700555.1:c.*251C>G	ENSP00000515062.1:n.*251C>G
ENST00000700556.1:c.1236C>G
ENST00000700557.1:c.*251C>G	ENSP00000515064.1:n.*251C>G
ENST00000700558.1:n.979C>G
ENST00000700559.1:c.1790C>G
ENST00000700560.1:n.2131C>G
ENST00000070846.11:c.*251C>G	ENSP00000070846.6:n.*251C>G
ENST00000340811.9:c.*251C>G MANE Select	ENSP00000342800.5:n.*251C>G
ENST00000070846.10:c.*251C>G	ENSP00000070846.6:n.*251C>G
ENST00000340811.8:c.*251C>G	ENSP00000342800.4:n.*251C>G
ENST00000546769.1:n.552C>G
NM_001005242.2:c.*251C>G	NP_001005242.2:n.*251C>G
NM_004572.3:c.*251C>G , LRG_398t1:c.*251C>G	NP_004563.2:n.*251C>G
NM_001005242.3:c.*251C>G MANE Select	NP_001005242.2:n.*251C>G
NM_004572.4:c.*251C>G	NP_004563.2:n.*251C>G