Canonical Allele Identifier: CA384360042

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955468G>C (hg19) ; chr12:g.32802534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802534G>C , CM000674.2:g.32802534G>C	GRCh38
NC_000012.11:g.32955468G>C , CM000674.1:g.32955468G>C	GRCh37
NC_000012.10:g.32846735G>C	NCBI36
NG_009000.1:g.99313C>G , LRG_398:g.99313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.539C>G
ENST00000700557.2:n.128C>G
ENST00000700559.2:c.2036C>G	ENSP00000515065.2:p.Thr679Arg
ENST00000546498.2:n.723C>G
ENST00000549461.2:n.575C>G
ENST00000700555.1:c.467C>G	ENSP00000515062.1:p.Thr156Arg
ENST00000700556.1:c.507C>G
ENST00000700557.1:c.47C>G	ENSP00000515064.1:p.Thr16Arg
ENST00000700558.1:n.250C>G
ENST00000700559.1:c.1251C>G
ENST00000700560.1:n.1251C>G
ENST00000700561.1:n.1377C>G
ENST00000070846.11:c.2168C>G	ENSP00000070846.6:p.Thr723Arg
ENST00000340811.9:c.2036C>G MANE Select	ENSP00000342800.5:p.Thr679Arg
ENST00000070846.10:c.2168C>G	ENSP00000070846.6:p.Thr723Arg
ENST00000340811.8:c.2036C>G	ENSP00000342800.4:p.Thr679Arg
ENST00000549461.1:n.482C>G
ENST00000613243.1:c.2168C>G	ENSP00000478295.1:p.Thr723Arg
NM_001005242.2:c.2036C>G	NP_001005242.2:p.Thr679Arg
NM_004572.3:c.2168C>G , LRG_398t1:c.2168C>G	NP_004563.2:p.Thr723Arg
NM_001005242.3:c.2036C>G MANE Select	NP_001005242.2:p.Thr679Arg
NM_004572.4:c.2168C>G	NP_004563.2:p.Thr723Arg