Canonical Allele Identifier: CA235218589

Gene: PKP2

Linked Data

• dbSNP Id: rs183864241
• gnomAD v2: 12-32949541-G-A
• gnomAD v3: 12-32796607-G-A
• gnomAD v4: 12-32796607-G-A
• MyVariant Identifiers: chr12:g.32949541G>A (hg19) ; chr12:g.32796607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796607G>A , CM000674.2:g.32796607G>A	GRCh38
NC_000012.11:g.32949541G>A , CM000674.1:g.32949541G>A	GRCh37
NC_000012.10:g.32840808G>A	NCBI36
NG_009000.1:g.105240C>T , LRG_398:g.105240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-309C>T
ENST00000700557.2:n.260-309C>T
ENST00000700559.2:c.2168-3876C>T	ENSP00000515065.2:n.2168-3876C>T
ENST00000546498.2:n.855-309C>T
ENST00000549461.2:n.660-309C>T
ENST00000700555.1:c.599-309C>T	ENSP00000515062.1:n.599-309C>T
ENST00000700556.1:c.639-309C>T
ENST00000700557.1:c.179-309C>T	ENSP00000515064.1:n.179-309C>T
ENST00000700558.1:n.382-309C>T
ENST00000700559.1:c.1383-3876C>T
ENST00000700560.1:n.1383-309C>T
ENST00000700561.1:n.1509-309C>T
ENST00000070846.11:c.2300-309C>T	ENSP00000070846.6:n.2300-309C>T
ENST00000340811.9:c.2168-309C>T MANE Select	ENSP00000342800.5:n.2168-309C>T
ENST00000070846.10:c.2300-309C>T	ENSP00000070846.6:n.2300-309C>T
ENST00000340811.8:c.2168-309C>T	ENSP00000342800.4:n.2168-309C>T
ENST00000613243.1:c.2300-309C>T	ENSP00000478295.1:n.2300-309C>T
NM_001005242.2:c.2168-309C>T	NP_001005242.2:n.2168-309C>T
NM_004572.3:c.2300-309C>T , LRG_398t1:c.2300-309C>T	NP_004563.2:n.2300-309C>T
NM_001005242.3:c.2168-309C>T MANE Select	NP_001005242.2:n.2168-309C>T
NM_004572.4:c.2300-309C>T	NP_004563.2:n.2300-309C>T