Canonical Allele Identifier: CA010659
Gene: PKP2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.32821439A>G
GRCh37 chr12:g.32974373A>G
Revel Score:
ENST00000340811 (MANE Select) 0.899
ENST00000070846 0.899
ENST00000537278 0.899
gnomAD v2:
12:32974373 A / G
gnomAD v3:
12:32821439 A / G
gnomAD v4:
chr12-32821439-A-G
Joint Max Group AF 0.00025366 (AFR)
Genomes Max Group AF 0.00020362 (AFR)
Exomes Max Group AF 0.00022952 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821439A>G , CM000674.2:g.32821439A>G GRCh38
NC_000012.11:g.32974373A>G , CM000674.1:g.32974373A>G GRCh37
NC_000012.10:g.32865640A>G NCBI36
NG_009000.1:g.80408T>C , LRG_398:g.80408T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.433T>C
ENST00000700559.2:c.1930T>C ENSP00000515065.2:p.Ser644Pro
ENST00000700563.2:c.1930T>C ENSP00000515066.2:p.Ser644Pro
ENST00000546498.2:n.617T>C
ENST00000549461.2:n.469T>C
ENST00000700555.1:c.361T>C ENSP00000515062.1:p.Ser121Pro
ENST00000700556.1:c.401T>C
ENST00000700558.1:n.144T>C
ENST00000700559.1:c.1145T>C
ENST00000700560.1:n.1145T>C
ENST00000700561.1:n.1271T>C
ENST00000700562.1:n.468T>C
ENST00000700563.1:c.1884T>C
ENST00000700564.1:n.1934T>C
ENST00000070846.11:c.2062T>C ENSP00000070846.6:p.Ser688Pro
ENST00000340811.9:c.1930T>C MANE Select ENSP00000342800.5:p.Ser644Pro
ENST00000070846.10:c.2062T>C ENSP00000070846.6:p.Ser688Pro
ENST00000340811.8:c.1930T>C ENSP00000342800.4:p.Ser644Pro
ENST00000549461.1:n.376T>C
ENST00000552612.5:n.351T>C
ENST00000613243.1:c.2062T>C ENSP00000478295.1:p.Ser688Pro
NM_001005242.2:c.1930T>C NP_001005242.2:p.Ser644Pro
NM_004572.3:c.2062T>C , LRG_398t1:c.2062T>C NP_004563.2:p.Ser688Pro
NM_001005242.3:c.1930T>C MANE Select NP_001005242.2:p.Ser644Pro
NM_004572.4:c.2062T>C NP_004563.2:p.Ser688Pro
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