Canonical Allele Identifier: CA027060

Gene: PKP2

Linked Data

• dbSNP Id: rs776927054
• ExAC: 12:33021930 T / G
• gnomAD v2: 12-33021930-T-G
• gnomAD v4: 12-32868996-T-G
• MyVariant Identifiers: chr12:g.33021930T>G (hg19) ; chr12:g.32868996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868996T>G , CM000674.2:g.32868996T>G	GRCh38
NC_000012.11:g.33021930T>G , CM000674.1:g.33021930T>G	GRCh37
NC_000012.10:g.32913197T>G	NCBI36
NG_009000.1:g.32851A>C , LRG_398:g.32851A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1101A>C	ENSP00000515065.2:p.Pro367=
ENST00000700563.2:c.1101A>C	ENSP00000515066.2:p.Pro367=
ENST00000700559.1:c.316A>C
ENST00000700560.1:n.316A>C
ENST00000700561.1:n.442A>C
ENST00000700563.1:c.1055A>C
ENST00000700564.1:n.1105A>C
ENST00000700565.1:n.954A>C
ENST00000070846.11:c.1101A>C	ENSP00000070846.6:p.Pro367=
ENST00000340811.9:c.1101A>C MANE Select	ENSP00000342800.5:p.Pro367=
ENST00000070846.10:c.1101A>C	ENSP00000070846.6:p.Pro367=
ENST00000340811.8:c.1101A>C	ENSP00000342800.4:p.Pro367=
ENST00000613243.1:c.1101A>C	ENSP00000478295.1:p.Pro367=
NM_001005242.2:c.1101A>C	NP_001005242.2:p.Pro367=
NM_004572.3:c.1101A>C , LRG_398t1:c.1101A>C	NP_004563.2:p.Pro367=
NM_001005242.3:c.1101A>C MANE Select	NP_001005242.2:p.Pro367=
NM_004572.4:c.1101A>C	NP_004563.2:p.Pro367=