Canonical Allele Identifier: CA2618225953

Gene: PKP2

Linked Data

• gnomAD v4: 12-32840985-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32840985T>A , CM000674.2:g.32840985T>A	GRCh38
NC_000012.11:g.32993919T>A , CM000674.1:g.32993919T>A	GRCh37
NC_000012.10:g.32885186T>A	NCBI36
NG_009000.1:g.60862A>T , LRG_398:g.60862A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1556+43A>T	ENSP00000515065.2:n.1556+43A>T
ENST00000700563.2:c.1556+43A>T	ENSP00000515066.2:n.1556+43A>T
ENST00000700556.1:c.27+43A>T
ENST00000700559.1:c.771+43A>T
ENST00000700560.1:n.771+43A>T
ENST00000700561.1:n.897+43A>T
ENST00000700563.1:c.1510+43A>T
ENST00000700564.1:n.1560+43A>T
ENST00000700565.1:n.1452A>T
ENST00000070846.11:c.1688+43A>T	ENSP00000070846.6:n.1688+43A>T
ENST00000340811.9:c.1556+43A>T MANE Select	ENSP00000342800.5:n.1556+43A>T
ENST00000070846.10:c.1688+43A>T	ENSP00000070846.6:n.1688+43A>T
ENST00000340811.8:c.1556+43A>T	ENSP00000342800.4:n.1556+43A>T
ENST00000613243.1:c.1688+43A>T	ENSP00000478295.1:n.1688+43A>T
NM_001005242.2:c.1556+43A>T	NP_001005242.2:n.1556+43A>T
NM_004572.3:c.1688+43A>T , LRG_398t1:c.1688+43A>T	NP_004563.2:n.1688+43A>T
NM_001005242.3:c.1556+43A>T MANE Select	NP_001005242.2:n.1556+43A>T
NM_004572.4:c.1688+43A>T	NP_004563.2:n.1688+43A>T