Canonical Allele Identifier: CA235222916

Gene: PKP2

Linked Data

• dbSNP Id: rs1021754504
• gnomAD v3: 12-32802547-A-G
• gnomAD v4: 12-32802547-A-G
• MyVariant Identifiers: chr12:g.32955481A>G (hg19) ; chr12:g.32802547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802547A>G , CM000674.2:g.32802547A>G	GRCh38
NC_000012.11:g.32955481A>G , CM000674.1:g.32955481A>G	GRCh37
NC_000012.10:g.32846748A>G	NCBI36
NG_009000.1:g.99300T>C , LRG_398:g.99300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.526T>C
ENST00000700557.2:n.115T>C
ENST00000700559.2:c.2023T>C	ENSP00000515065.2:p.Ser675Pro
ENST00000546498.2:n.710T>C
ENST00000549461.2:n.562T>C
ENST00000700555.1:c.454T>C	ENSP00000515062.1:p.Ser152Pro
ENST00000700556.1:c.494T>C
ENST00000700557.1:c.34T>C	ENSP00000515064.1:p.Ser12Pro
ENST00000700558.1:n.237T>C
ENST00000700559.1:c.1238T>C
ENST00000700560.1:n.1238T>C
ENST00000700561.1:n.1364T>C
ENST00000070846.11:c.2155T>C	ENSP00000070846.6:p.Ser719Pro
ENST00000340811.9:c.2023T>C MANE Select	ENSP00000342800.5:p.Ser675Pro
ENST00000070846.10:c.2155T>C	ENSP00000070846.6:p.Ser719Pro
ENST00000340811.8:c.2023T>C	ENSP00000342800.4:p.Ser675Pro
ENST00000549461.1:n.469T>C
ENST00000613243.1:c.2155T>C	ENSP00000478295.1:p.Ser719Pro
NM_001005242.2:c.2023T>C	NP_001005242.2:p.Ser675Pro
NM_004572.3:c.2155T>C , LRG_398t1:c.2155T>C	NP_004563.2:p.Ser719Pro
NM_001005242.3:c.2023T>C MANE Select	NP_001005242.2:p.Ser675Pro
NM_004572.4:c.2155T>C	NP_004563.2:p.Ser719Pro