Canonical Allele Identifier: CA2618225560

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822677-C-CCCGCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822677_32822678insCCGCCTGT , CM000674.2:g.32822677_32822678insCCGCCTGT	GRCh38
NC_000012.11:g.32975611_32975612insCCGCCTGT , CM000674.1:g.32975611_32975612insCCGCCTGT	GRCh37
NC_000012.10:g.32866878_32866879insCCGCCTGT	NCBI36
NG_009000.1:g.79169_79170insACAGGCGG , LRG_398:g.79169_79170insACAGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-47_187-46insACAGGCGG
ENST00000700559.2:c.1675-47_1675-46insACAGGCGG	ENSP00000515065.2:n.1675-47_1675-46insACAGGCGG
ENST00000700563.2:c.1675-47_1675-46insACAGGCGG	ENSP00000515066.2:n.1675-47_1675-46insACAGGCGG
ENST00000546498.2:n.362-47_362-46insACAGGCGG
ENST00000700555.1:c.115-47_115-46insACAGGCGG	ENSP00000515062.1:n.115-47_115-46insACAGGCGG
ENST00000700556.1:c.146-47_146-46insACAGGCGG
ENST00000700559.1:c.890-47_890-46insACAGGCGG
ENST00000700560.1:n.890-47_890-46insACAGGCGG
ENST00000700561.1:n.1016-47_1016-46insACAGGCGG
ENST00000700563.1:c.1629-47_1629-46insACAGGCGG
ENST00000700564.1:n.1679-47_1679-46insACAGGCGG
ENST00000070846.11:c.1807-47_1807-46insACAGGCGG	ENSP00000070846.6:n.1807-47_1807-46insACAGGCGG
ENST00000340811.9:c.1675-47_1675-46insACAGGCGG MANE Select	ENSP00000342800.5:n.1675-47_1675-46insACAGGCGG
ENST00000070846.10:c.1807-47_1807-46insACAGGCGG	ENSP00000070846.6:n.1807-47_1807-46insACAGGCGG
ENST00000340811.8:c.1675-47_1675-46insACAGGCGG	ENSP00000342800.4:n.1675-47_1675-46insACAGGCGG
ENST00000546498.1:n.362-47_362-46insACAGGCGG
ENST00000552612.5:n.96-47_96-46insACAGGCGG
ENST00000613243.1:c.1807-47_1807-46insACAGGCGG	ENSP00000478295.1:n.1807-47_1807-46insACAGGCGG
NM_001005242.2:c.1675-47_1675-46insACAGGCGG	NP_001005242.2:n.1675-47_1675-46insACAGGCGG
NM_004572.3:c.1807-47_1807-46insACAGGCGG , LRG_398t1:c.1807-47_1807-46insACAGGCGG	NP_004563.2:n.1807-47_1807-46insACAGGCGG
NM_001005242.3:c.1675-47_1675-46insACAGGCGG MANE Select	NP_001005242.2:n.1675-47_1675-46insACAGGCGG
NM_004572.4:c.1807-47_1807-46insACAGGCGG	NP_004563.2:n.1807-47_1807-46insACAGGCGG