Canonical Allele Identifier: CA479174567

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1628131
• ClinVar RCV Id: RCV002125170
• dbSNP Id: rs2137919557
• MyVariant Identifiers: chr12:g.33021909A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868975A>G , CM000674.2:g.32868975A>G	GRCh38
NC_000012.11:g.33021909A>G , CM000674.1:g.33021909A>G	GRCh37
NC_000012.10:g.32913176A>G	NCBI36
NG_009000.1:g.32872T>C , LRG_398:g.32872T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1122T>C	ENSP00000515065.2:p.Ala374=
ENST00000700563.2:c.1122T>C	ENSP00000515066.2:p.Ala374=
ENST00000700559.1:c.337T>C
ENST00000700560.1:n.337T>C
ENST00000700561.1:n.463T>C
ENST00000700563.1:c.1076T>C
ENST00000700564.1:n.1126T>C
ENST00000700565.1:n.975T>C
ENST00000070846.11:c.1122T>C	ENSP00000070846.6:p.Ala374=
ENST00000340811.9:c.1122T>C MANE Select	ENSP00000342800.5:p.Ala374=
ENST00000070846.10:c.1122T>C	ENSP00000070846.6:p.Ala374=
ENST00000340811.8:c.1122T>C	ENSP00000342800.4:p.Ala374=
ENST00000613243.1:c.1122T>C	ENSP00000478295.1:p.Ala374=
NM_001005242.2:c.1122T>C	NP_001005242.2:p.Ala374=
NM_004572.3:c.1122T>C , LRG_398t1:c.1122T>C	NP_004563.2:p.Ala374=
NM_001005242.3:c.1122T>C MANE Select	NP_001005242.2:p.Ala374=
NM_004572.4:c.1122T>C	NP_004563.2:p.Ala374=