Canonical Allele Identifier: CA687428219

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792419T>C , CM000674.2:g.32792419T>C	GRCh38
NC_000012.11:g.32945353T>C , CM000674.1:g.32945353T>C	GRCh37
NC_000012.10:g.32836620T>C	NCBI36
NG_009000.1:g.109428A>G , LRG_398:g.109428A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.*5A>G MANE Select	NP_001005242.2:n.*5A>G
ENST00000340811.9:c.*5A>G MANE Select	ENSP00000342800.5:n.*5A>G
NM_001005242.2:c.*5A>G	NP_001005242.2:n.*5A>G
NM_004572.3:c.*5A>G , LRG_398t1:c.*5A>G	NP_004563.2:n.*5A>G
NM_004572.4:c.*5A>G	NP_004563.2:n.*5A>G
ENST00000070846.10:c.*5A>G	ENSP00000070846.6:n.*5A>G
ENST00000070846.11:c.*5A>G	ENSP00000070846.6:n.*5A>G
ENST00000340811.8:c.*5A>G	ENSP00000342800.4:n.*5A>G
ENST00000546498.2:n.1206A>G
ENST00000546769.1:n.306A>G
ENST00000549461.2:n.1011A>G
ENST00000700555.1:c.*5A>G	ENSP00000515062.1:n.*5A>G
ENST00000700555.2:n.1022A>G
ENST00000700556.1:c.990A>G
ENST00000700557.1:c.*5A>G	ENSP00000515064.1:n.*5A>G
ENST00000700557.2:n.611A>G
ENST00000700558.1:n.733A>G
ENST00000700559.1:c.1544A>G
ENST00000700559.2:c.2329A>G	ENSP00000515065.2:p.Asn777Asp
ENST00000700560.1:n.1885A>G