Canonical Allele Identifier: CA384357540

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796126-G-C
• MyVariant Identifiers: chr12:g.32949060G>C (hg19) ; chr12:g.32796126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796126G>C , CM000674.2:g.32796126G>C	GRCh38
NC_000012.11:g.32949060G>C , CM000674.1:g.32949060G>C	GRCh37
NC_000012.10:g.32840327G>C	NCBI36
NG_009000.1:g.105721C>G , LRG_398:g.105721C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.843C>G
ENST00000700557.2:n.432C>G
ENST00000700559.2:c.2168-3395C>G	ENSP00000515065.2:n.2168-3395C>G
ENST00000546498.2:n.1027C>G
ENST00000549461.2:n.832C>G
ENST00000700555.1:c.771C>G	ENSP00000515062.1:p.Ala257=
ENST00000700556.1:c.811C>G
ENST00000700557.1:c.351C>G	ENSP00000515064.1:p.Ala117=
ENST00000700558.1:n.554C>G
ENST00000700559.1:c.1383-3395C>G
ENST00000700560.1:n.1555C>G
ENST00000700561.1:n.1681C>G
ENST00000070846.11:c.2472C>G	ENSP00000070846.6:p.Ala824=
ENST00000340811.9:c.2340C>G MANE Select	ENSP00000342800.5:p.Ala780=
ENST00000070846.10:c.2472C>G	ENSP00000070846.6:p.Ala824=
ENST00000340811.8:c.2340C>G	ENSP00000342800.4:p.Ala780=
ENST00000613243.1:c.2470C>G	ENSP00000478295.1:p.His824Asp
NM_001005242.2:c.2340C>G	NP_001005242.2:p.Ala780=
NM_004572.3:c.2472C>G , LRG_398t1:c.2472C>G	NP_004563.2:p.Ala824=
NM_001005242.3:c.2340C>G MANE Select	NP_001005242.2:p.Ala780=
NM_004572.4:c.2472C>G	NP_004563.2:p.Ala824=