Canonical Allele Identifier: CA384359395

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955373T>G (hg19) ; chr12:g.32802439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802439T>G , CM000674.2:g.32802439T>G	GRCh38
NC_000012.11:g.32955373T>G , CM000674.1:g.32955373T>G	GRCh37
NC_000012.10:g.32846640T>G	NCBI36
NG_009000.1:g.99408A>C , LRG_398:g.99408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.634A>C
ENST00000700557.2:n.223A>C
ENST00000700559.2:c.2131A>C	ENSP00000515065.2:p.Asn711His
ENST00000546498.2:n.818A>C
ENST00000549461.2:n.659+11A>C
ENST00000700555.1:c.562A>C	ENSP00000515062.1:p.Asn188His
ENST00000700556.1:c.602A>C
ENST00000700557.1:c.142A>C	ENSP00000515064.1:p.Asn48His
ENST00000700558.1:n.345A>C
ENST00000700559.1:c.1346A>C
ENST00000700560.1:n.1346A>C
ENST00000700561.1:n.1472A>C
ENST00000070846.11:c.2263A>C	ENSP00000070846.6:p.Asn755His
ENST00000340811.9:c.2131A>C MANE Select	ENSP00000342800.5:p.Asn711His
ENST00000070846.10:c.2263A>C	ENSP00000070846.6:p.Asn755His
ENST00000340811.8:c.2131A>C	ENSP00000342800.4:p.Asn711His
ENST00000613243.1:c.2263A>C	ENSP00000478295.1:p.Asn755His
NM_001005242.2:c.2131A>C	NP_001005242.2:p.Asn711His
NM_004572.3:c.2263A>C , LRG_398t1:c.2263A>C	NP_004563.2:p.Asn755His
NM_001005242.3:c.2131A>C MANE Select	NP_001005242.2:p.Asn711His
NM_004572.4:c.2263A>C	NP_004563.2:p.Asn755His