Canonical Allele Identifier: CA384361856

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3074179
• ClinVar RCV Id: RCV004012721
• dbSNP Id: rs1956376516
• MyVariant Identifiers: chr12:g.32974390A>G (hg19) ; chr12:g.32821456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821456A>G , CM000674.2:g.32821456A>G	GRCh38
NC_000012.11:g.32974390A>G , CM000674.1:g.32974390A>G	GRCh37
NC_000012.10:g.32865657A>G	NCBI36
NG_009000.1:g.80391T>C , LRG_398:g.80391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.416T>C
ENST00000700559.2:c.1913T>C	ENSP00000515065.2:p.Val638Ala
ENST00000700563.2:c.1913T>C	ENSP00000515066.2:p.Val638Ala
ENST00000546498.2:n.600T>C
ENST00000549461.2:n.452T>C
ENST00000700555.1:c.344T>C	ENSP00000515062.1:p.Val115Ala
ENST00000700556.1:c.384T>C
ENST00000700558.1:n.127T>C
ENST00000700559.1:c.1128T>C
ENST00000700560.1:n.1128T>C
ENST00000700561.1:n.1254T>C
ENST00000700562.1:n.451T>C
ENST00000700563.1:c.1867T>C
ENST00000700564.1:n.1917T>C
ENST00000070846.11:c.2045T>C	ENSP00000070846.6:p.Val682Ala
ENST00000340811.9:c.1913T>C MANE Select	ENSP00000342800.5:p.Val638Ala
ENST00000070846.10:c.2045T>C	ENSP00000070846.6:p.Val682Ala
ENST00000340811.8:c.1913T>C	ENSP00000342800.4:p.Val638Ala
ENST00000549461.1:n.359T>C
ENST00000552612.5:n.334T>C
ENST00000613243.1:c.2045T>C	ENSP00000478295.1:p.Val682Ala
NM_001005242.2:c.1913T>C	NP_001005242.2:p.Val638Ala
NM_004572.3:c.2045T>C , LRG_398t1:c.2045T>C	NP_004563.2:p.Val682Ala
NM_001005242.3:c.1913T>C MANE Select	NP_001005242.2:p.Val638Ala
NM_004572.4:c.2045T>C	NP_004563.2:p.Val682Ala