Canonical Allele Identifier: CA384362298

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974436C>G (hg19) ; chr12:g.32821502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821502C>G , CM000674.2:g.32821502C>G	GRCh38
NC_000012.11:g.32974436C>G , CM000674.1:g.32974436C>G	GRCh37
NC_000012.10:g.32865703C>G	NCBI36
NG_009000.1:g.80345G>C , LRG_398:g.80345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.370G>C
ENST00000700559.2:c.1867G>C	ENSP00000515065.2:p.Glu623Gln
ENST00000700563.2:c.1867G>C	ENSP00000515066.2:p.Glu623Gln
ENST00000546498.2:n.554G>C
ENST00000549461.2:n.406G>C
ENST00000700555.1:c.298G>C	ENSP00000515062.1:p.Glu100Gln
ENST00000700556.1:c.338G>C
ENST00000700558.1:n.81G>C
ENST00000700559.1:c.1082G>C
ENST00000700560.1:n.1082G>C
ENST00000700561.1:n.1208G>C
ENST00000700562.1:n.405G>C
ENST00000700563.1:c.1821G>C
ENST00000700564.1:n.1871G>C
ENST00000070846.11:c.1999G>C	ENSP00000070846.6:p.Glu667Gln
ENST00000340811.9:c.1867G>C MANE Select	ENSP00000342800.5:p.Glu623Gln
ENST00000070846.10:c.1999G>C	ENSP00000070846.6:p.Glu667Gln
ENST00000340811.8:c.1867G>C	ENSP00000342800.4:p.Glu623Gln
ENST00000546498.1:n.554G>C
ENST00000549461.1:n.313G>C
ENST00000552612.5:n.288G>C
ENST00000613243.1:c.1999G>C	ENSP00000478295.1:p.Glu667Gln
NM_001005242.2:c.1867G>C	NP_001005242.2:p.Glu623Gln
NM_004572.3:c.1999G>C , LRG_398t1:c.1999G>C	NP_004563.2:p.Glu667Gln
NM_001005242.3:c.1867G>C MANE Select	NP_001005242.2:p.Glu623Gln
NM_004572.4:c.1999G>C	NP_004563.2:p.Glu667Gln