Canonical Allele Identifier: CA10637297

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308492
• ClinVar RCV Id: RCV000339254
• dbSNP Id: rs529644235
• gnomAD v3: 12-32792024-T-C
• gnomAD v4: 12-32792024-T-C
• MyVariant Identifiers: chr12:g.32944958T>C (hg19) ; chr12:g.32792024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792024T>C , CM000674.2:g.32792024T>C	GRCh38
NC_000012.11:g.32944958T>C , CM000674.1:g.32944958T>C	GRCh37
NC_000012.10:g.32836225T>C	NCBI36
NG_009000.1:g.109823A>G , LRG_398:g.109823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1417A>G
ENST00000700557.2:n.1006A>G
ENST00000700559.2:c.*255A>G	ENSP00000515065.2:n.*255A>G
ENST00000549461.2:n.1406A>G
ENST00000700555.1:c.*400A>G	ENSP00000515062.1:n.*400A>G
ENST00000700556.1:c.1385A>G
ENST00000700557.1:c.*400A>G	ENSP00000515064.1:n.*400A>G
ENST00000700558.1:n.1128A>G
ENST00000700559.1:c.1939A>G
ENST00000700560.1:n.2280A>G
ENST00000070846.11:c.*400A>G	ENSP00000070846.6:n.*400A>G
ENST00000340811.9:c.*400A>G MANE Select	ENSP00000342800.5:n.*400A>G
ENST00000070846.10:c.*400A>G	ENSP00000070846.6:n.*400A>G
ENST00000340811.8:c.*400A>G	ENSP00000342800.4:n.*400A>G
ENST00000546769.1:n.701A>G
NM_001005242.2:c.*400A>G	NP_001005242.2:n.*400A>G
NM_004572.3:c.*400A>G , LRG_398t1:c.*400A>G	NP_004563.2:n.*400A>G
NM_001005242.3:c.*400A>G MANE Select	NP_001005242.2:n.*400A>G
NM_004572.4:c.*400A>G	NP_004563.2:n.*400A>G