Canonical Allele Identifier: CA2618225950

Gene: PKP2

Linked Data

• gnomAD v4: 12-32840979-C-CCCAAGGAAGGATGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32840979_32840980insCCAAGGAAGGATGCAA , CM000674.2:g.32840979_32840980insCCAAGGAAGGATGCAA	GRCh38
NC_000012.11:g.32993913_32993914insCCAAGGAAGGATGCAA , CM000674.1:g.32993913_32993914insCCAAGGAAGGATGCAA	GRCh37
NC_000012.10:g.32885180_32885181insCCAAGGAAGGATGCAA	NCBI36
NG_009000.1:g.60867_60868insTTGCATCCTTCCTTGG , LRG_398:g.60867_60868insTTGCATCCTTCCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1556+48_1556+49insTTGCATCCTTCCTTGG	ENSP00000515065.2:n.1556+48_1556+49insTTGCATCCTTCCTTGG
ENST00000700563.2:c.1556+48_1556+49insTTGCATCCTTCCTTGG	ENSP00000515066.2:n.1556+48_1556+49insTTGCATCCTTCCTTGG
ENST00000700556.1:c.27+48_27+49insTTGCATCCTTCCTTGG
ENST00000700559.1:c.771+48_771+49insTTGCATCCTTCCTTGG
ENST00000700560.1:n.771+48_771+49insTTGCATCCTTCCTTGG
ENST00000700561.1:n.897+48_897+49insTTGCATCCTTCCTTGG
ENST00000700563.1:c.1510+48_1510+49insTTGCATCCTTCCTTGG
ENST00000700564.1:n.1560+48_1560+49insTTGCATCCTTCCTTGG
ENST00000700565.1:n.1457_1458insTTGCATCCTTCCTTGG
ENST00000070846.11:c.1688+48_1688+49insTTGCATCCTTCCTTGG	ENSP00000070846.6:n.1688+48_1688+49insTTGCATCCTTCCTTGG
ENST00000340811.9:c.1556+48_1556+49insTTGCATCCTTCCTTGG MANE Select	ENSP00000342800.5:n.1556+48_1556+49insTTGCATCCTTCCTTGG
ENST00000070846.10:c.1688+48_1688+49insTTGCATCCTTCCTTGG	ENSP00000070846.6:n.1688+48_1688+49insTTGCATCCTTCCTTGG
ENST00000340811.8:c.1556+48_1556+49insTTGCATCCTTCCTTGG	ENSP00000342800.4:n.1556+48_1556+49insTTGCATCCTTCCTTGG
ENST00000613243.1:c.1688+48_1688+49insTTGCATCCTTCCTTGG	ENSP00000478295.1:n.1688+48_1688+49insTTGCATCCTTCCTTGG
NM_001005242.2:c.1556+48_1556+49insTTGCATCCTTCCTTGG	NP_001005242.2:n.1556+48_1556+49insTTGCATCCTTCCTTGG
NM_004572.3:c.1688+48_1688+49insTTGCATCCTTCCTTGG , LRG_398t1:c.1688+48_1688+49insTTGCATCCTTCCTTGG	NP_004563.2:n.1688+48_1688+49insTTGCATCCTTCCTTGG
NM_001005242.3:c.1556+48_1556+49insTTGCATCCTTCCTTGG MANE Select	NP_001005242.2:n.1556+48_1556+49insTTGCATCCTTCCTTGG
NM_004572.4:c.1688+48_1688+49insTTGCATCCTTCCTTGG	NP_004563.2:n.1688+48_1688+49insTTGCATCCTTCCTTGG