Canonical Allele Identifier: CA384356738

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32945392C>G (hg19) ; chr12:g.32792458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792458C>G , CM000674.2:g.32792458C>G	GRCh38
NC_000012.11:g.32945392C>G , CM000674.1:g.32945392C>G	GRCh37
NC_000012.10:g.32836659C>G	NCBI36
NG_009000.1:g.109389G>C , LRG_398:g.109389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.983G>C
ENST00000700557.2:n.572G>C
ENST00000700559.2:c.2290G>C	ENSP00000515065.2:p.Gly764Arg
ENST00000546498.2:n.1167G>C
ENST00000549461.2:n.972G>C
ENST00000700555.1:c.911G>C	ENSP00000515062.1:p.Arg304Pro
ENST00000700556.1:c.951G>C
ENST00000700557.1:c.491G>C	ENSP00000515064.1:p.Arg164Pro
ENST00000700558.1:n.694G>C
ENST00000700559.1:c.1505G>C
ENST00000700560.1:n.1846G>C
ENST00000070846.11:c.2612G>C	ENSP00000070846.6:p.Arg871Pro
ENST00000340811.9:c.2480G>C MANE Select	ENSP00000342800.5:p.Arg827Pro
ENST00000070846.10:c.2612G>C	ENSP00000070846.6:p.Arg871Pro
ENST00000340811.8:c.2480G>C	ENSP00000342800.4:p.Arg827Pro
ENST00000546769.1:n.267G>C
ENST00000613243.1:c.2610G>C	ENSP00000478295.1:n.2610G>C
NM_001005242.2:c.2480G>C	NP_001005242.2:p.Arg827Pro
NM_004572.3:c.2612G>C , LRG_398t1:c.2612G>C	NP_004563.2:p.Arg871Pro
NM_001005242.3:c.2480G>C MANE Select	NP_001005242.2:p.Arg827Pro
NM_004572.4:c.2612G>C	NP_004563.2:p.Arg871Pro