Canonical Allele Identifier: CA384366594

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.33031921A>T (hg19) ; chr12:g.32878987A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878987A>T , CM000674.2:g.32878987A>T	GRCh38
NC_000012.11:g.33031921A>T , CM000674.1:g.33031921A>T	GRCh37
NC_000012.10:g.32923188A>T	NCBI36
NG_009000.1:g.22860T>A , LRG_398:g.22860T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.269T>A	ENSP00000515065.2:p.Leu90Gln
ENST00000700563.2:c.269T>A	ENSP00000515066.2:p.Leu90Gln
ENST00000700563.1:c.223T>A
ENST00000700564.1:n.273T>A
ENST00000700565.1:n.122T>A
ENST00000070846.11:c.269T>A	ENSP00000070846.6:p.Leu90Gln
ENST00000340811.9:c.269T>A MANE Select	ENSP00000342800.5:p.Leu90Gln
ENST00000070846.10:c.269T>A	ENSP00000070846.6:p.Leu90Gln
ENST00000340811.8:c.269T>A	ENSP00000342800.4:p.Leu90Gln
ENST00000613243.1:c.269T>A	ENSP00000478295.1:p.Leu90Gln
NM_001005242.2:c.269T>A	NP_001005242.2:p.Leu90Gln
NM_004572.3:c.269T>A , LRG_398t1:c.269T>A	NP_004563.2:p.Leu90Gln
NM_001005242.3:c.269T>A MANE Select	NP_001005242.2:p.Leu90Gln
NM_004572.4:c.269T>A	NP_004563.2:p.Leu90Gln