Canonical Allele Identifier: CA384359283

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955355A>C (hg19) ; chr12:g.32802421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802421A>C , CM000674.2:g.32802421A>C	GRCh38
NC_000012.11:g.32955355A>C , CM000674.1:g.32955355A>C	GRCh37
NC_000012.10:g.32846622A>C	NCBI36
NG_009000.1:g.99426T>G , LRG_398:g.99426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.652T>G
ENST00000700557.2:n.241T>G
ENST00000700559.2:c.2149T>G	ENSP00000515065.2:p.Ser717Ala
ENST00000546498.2:n.836T>G
ENST00000549461.2:n.659+29T>G
ENST00000700555.1:c.580T>G	ENSP00000515062.1:p.Ser194Ala
ENST00000700556.1:c.620T>G
ENST00000700557.1:c.160T>G	ENSP00000515064.1:p.Ser54Ala
ENST00000700558.1:n.363T>G
ENST00000700559.1:c.1364T>G
ENST00000700560.1:n.1364T>G
ENST00000700561.1:n.1490T>G
ENST00000070846.11:c.2281T>G	ENSP00000070846.6:p.Ser761Ala
ENST00000340811.9:c.2149T>G MANE Select	ENSP00000342800.5:p.Ser717Ala
ENST00000070846.10:c.2281T>G	ENSP00000070846.6:p.Ser761Ala
ENST00000340811.8:c.2149T>G	ENSP00000342800.4:p.Ser717Ala
ENST00000613243.1:c.2281T>G	ENSP00000478295.1:p.Ser761Ala
NM_001005242.2:c.2149T>G	NP_001005242.2:p.Ser717Ala
NM_004572.3:c.2281T>G , LRG_398t1:c.2281T>G	NP_004563.2:p.Ser761Ala
NM_001005242.3:c.2149T>G MANE Select	NP_001005242.2:p.Ser717Ala
NM_004572.4:c.2281T>G	NP_004563.2:p.Ser761Ala