Canonical Allele Identifier: CA479174812

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955422C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802488C>G , CM000674.2:g.32802488C>G	GRCh38
NC_000012.11:g.32955422C>G , CM000674.1:g.32955422C>G	GRCh37
NC_000012.10:g.32846689C>G	NCBI36
NG_009000.1:g.99359G>C , LRG_398:g.99359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.585G>C
ENST00000700557.2:n.174G>C
ENST00000700559.2:c.2082G>C	ENSP00000515065.2:p.Leu694=
ENST00000546498.2:n.769G>C
ENST00000549461.2:n.621G>C
ENST00000700555.1:c.513G>C	ENSP00000515062.1:p.Leu171=
ENST00000700556.1:c.553G>C
ENST00000700557.1:c.93G>C	ENSP00000515064.1:p.Leu31=
ENST00000700558.1:n.296G>C
ENST00000700559.1:c.1297G>C
ENST00000700560.1:n.1297G>C
ENST00000700561.1:n.1423G>C
ENST00000070846.11:c.2214G>C	ENSP00000070846.6:p.Leu738=
ENST00000340811.9:c.2082G>C MANE Select	ENSP00000342800.5:p.Leu694=
ENST00000070846.10:c.2214G>C	ENSP00000070846.6:p.Leu738=
ENST00000340811.8:c.2082G>C	ENSP00000342800.4:p.Leu694=
ENST00000549461.1:n.528G>C
ENST00000613243.1:c.2214G>C	ENSP00000478295.1:p.Leu738=
NM_001005242.2:c.2082G>C	NP_001005242.2:p.Leu694=
NM_004572.3:c.2214G>C , LRG_398t1:c.2214G>C	NP_004563.2:p.Leu738=
NM_001005242.3:c.2082G>C MANE Select	NP_001005242.2:p.Leu694=
NM_004572.4:c.2214G>C	NP_004563.2:p.Leu738=