Canonical Allele Identifier: CA384370140

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.33003788T>G (hg19) ; chr12:g.32850854T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850854T>G , CM000674.2:g.32850854T>G	GRCh38
NC_000012.11:g.33003788T>G , CM000674.1:g.33003788T>G	GRCh37
NC_000012.10:g.32895055T>G	NCBI36
NG_009000.1:g.50993A>C , LRG_398:g.50993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1290A>C	ENSP00000515065.2:p.Lys430Asn
ENST00000700563.2:c.1290A>C	ENSP00000515066.2:p.Lys430Asn
ENST00000700559.1:c.505A>C
ENST00000700560.1:n.505A>C
ENST00000700561.1:n.631A>C
ENST00000700563.1:c.1244A>C
ENST00000700564.1:n.1294A>C
ENST00000700565.1:n.1143A>C
ENST00000070846.11:c.1290A>C	ENSP00000070846.6:p.Lys430Asn
ENST00000340811.9:c.1290A>C MANE Select	ENSP00000342800.5:p.Lys430Asn
ENST00000070846.10:c.1290A>C	ENSP00000070846.6:p.Lys430Asn
ENST00000340811.8:c.1290A>C	ENSP00000342800.4:p.Lys430Asn
ENST00000613243.1:c.1290A>C	ENSP00000478295.1:p.Lys430Asn
NM_001005242.2:c.1290A>C	NP_001005242.2:p.Lys430Asn
NM_004572.3:c.1290A>C , LRG_398t1:c.1290A>C	NP_004563.2:p.Lys430Asn
NM_001005242.3:c.1290A>C MANE Select	NP_001005242.2:p.Lys430Asn
NM_004572.4:c.1290A>C	NP_004563.2:p.Lys430Asn