Canonical Allele Identifier: CA384368012

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32994100T>G (hg19) ; chr12:g.32841166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841166T>G , CM000674.2:g.32841166T>G	GRCh38
NC_000012.11:g.32994100T>G , CM000674.1:g.32994100T>G	GRCh37
NC_000012.10:g.32885367T>G	NCBI36
NG_009000.1:g.60681A>C , LRG_398:g.60681A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1418A>C	ENSP00000515065.2:p.Asn473Thr
ENST00000700563.2:c.1418A>C	ENSP00000515066.2:p.Asn473Thr
ENST00000700559.1:c.633A>C
ENST00000700560.1:n.633A>C
ENST00000700561.1:n.759A>C
ENST00000700563.1:c.1372A>C
ENST00000700564.1:n.1422A>C
ENST00000700565.1:n.1271A>C
ENST00000070846.11:c.1550A>C	ENSP00000070846.6:p.Asn517Thr
ENST00000340811.9:c.1418A>C MANE Select	ENSP00000342800.5:p.Asn473Thr
ENST00000070846.10:c.1550A>C	ENSP00000070846.6:p.Asn517Thr
ENST00000340811.8:c.1418A>C	ENSP00000342800.4:p.Asn473Thr
ENST00000613243.1:c.1550A>C	ENSP00000478295.1:p.Asn517Thr
NM_001005242.2:c.1418A>C	NP_001005242.2:p.Asn473Thr
NM_004572.3:c.1550A>C , LRG_398t1:c.1550A>C	NP_004563.2:p.Asn517Thr
NM_001005242.3:c.1418A>C MANE Select	NP_001005242.2:p.Asn473Thr
NM_004572.4:c.1550A>C	NP_004563.2:p.Asn517Thr