Canonical Allele Identifier: CA479176586

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32977030T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824096T>G , CM000674.2:g.32824096T>G	GRCh38
NC_000012.11:g.32977030T>G , CM000674.1:g.32977030T>G	GRCh37
NC_000012.10:g.32868297T>G	NCBI36
NG_009000.1:g.77751A>C , LRG_398:g.77751A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.135A>C
ENST00000700559.2:c.1623A>C	ENSP00000515065.2:p.Ser541=
ENST00000700563.2:c.1623A>C	ENSP00000515066.2:p.Ser541=
ENST00000546498.2:n.310A>C
ENST00000700555.1:c.63A>C	ENSP00000515062.1:p.Ser21=
ENST00000700556.1:c.94A>C
ENST00000700559.1:c.838A>C
ENST00000700560.1:n.838A>C
ENST00000700561.1:n.964A>C
ENST00000700563.1:c.1577A>C
ENST00000700564.1:n.1627A>C
ENST00000070846.11:c.1755A>C	ENSP00000070846.6:p.Ser585=
ENST00000340811.9:c.1623A>C MANE Select	ENSP00000342800.5:p.Ser541=
ENST00000070846.10:c.1755A>C	ENSP00000070846.6:p.Ser585=
ENST00000340811.8:c.1623A>C	ENSP00000342800.4:p.Ser541=
ENST00000546498.1:n.310A>C
ENST00000552612.5:n.44A>C
ENST00000613243.1:c.1755A>C	ENSP00000478295.1:p.Ser585=
NM_001005242.2:c.1623A>C	NP_001005242.2:p.Ser541=
NM_004572.3:c.1755A>C , LRG_398t1:c.1755A>C	NP_004563.2:p.Ser585=
NM_001005242.3:c.1623A>C MANE Select	NP_001005242.2:p.Ser541=
NM_004572.4:c.1755A>C	NP_004563.2:p.Ser585=