Canonical Allele Identifier: CA2618222893

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796077-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796077A>G , CM000674.2:g.32796077A>G	GRCh38
NC_000012.11:g.32949011A>G , CM000674.1:g.32949011A>G	GRCh37
NC_000012.10:g.32840278A>G	NCBI36
NG_009000.1:g.105770T>C , LRG_398:g.105770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+32T>C
ENST00000700557.2:n.449+32T>C
ENST00000700559.2:c.2168-3346T>C	ENSP00000515065.2:n.2168-3346T>C
ENST00000546498.2:n.1044+32T>C
ENST00000549461.2:n.849+32T>C
ENST00000700555.1:c.788+32T>C	ENSP00000515062.1:n.788+32T>C
ENST00000700556.1:c.828+32T>C
ENST00000700557.1:c.368+32T>C	ENSP00000515064.1:n.368+32T>C
ENST00000700558.1:n.571+32T>C
ENST00000700559.1:c.1383-3346T>C
ENST00000700560.1:n.1572+32T>C
ENST00000700561.1:n.1730T>C
ENST00000070846.11:c.2489+32T>C	ENSP00000070846.6:n.2489+32T>C
ENST00000340811.9:c.2357+32T>C MANE Select	ENSP00000342800.5:n.2357+32T>C
ENST00000070846.10:c.2489+32T>C	ENSP00000070846.6:n.2489+32T>C
ENST00000340811.8:c.2357+32T>C	ENSP00000342800.4:n.2357+32T>C
ENST00000613243.1:c.2487+32T>C	ENSP00000478295.1:n.2487+32T>C
NM_001005242.2:c.2357+32T>C	NP_001005242.2:n.2357+32T>C
NM_004572.3:c.2489+32T>C , LRG_398t1:c.2489+32T>C	NP_004563.2:n.2489+32T>C
NM_001005242.3:c.2357+32T>C MANE Select	NP_001005242.2:n.2357+32T>C
NM_004572.4:c.2489+32T>C	NP_004563.2:n.2489+32T>C