Canonical Allele Identifier: CA604480611

Gene: PKP2

Linked Data

• gnomAD v2: 12-32949253-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• MyVariant Identifiers: chr12:g.32949253_32949254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796323_32796324insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.32796323_32796324insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.32949257_32949258insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.32949257_32949258insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.32840524_32840525insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_009000.1:g.105527_105528insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_398:g.105527_105528insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-22_671-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700557.2:n.260-22_260-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700559.2:c.2168-3589_2168-3588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515065.2:n.2168-3589_2168-3588insTTTTTTTTTTTTTTTTTTT...
ENST00000546498.2:n.855-22_855-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000549461.2:n.660-22_660-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700555.1:c.599-22_599-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515062.1:n.599-22_599-21insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000700556.1:c.639-22_639-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700557.1:c.179-22_179-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515064.1:n.179-22_179-21insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000700558.1:n.382-22_382-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700559.1:c.1383-3589_1383-3588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700560.1:n.1383-22_1383-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700561.1:n.1509-22_1509-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000070846.11:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000070846.6:n.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000340811.9:c.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000342800.5:n.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000070846.10:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000070846.6:n.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000340811.8:c.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000342800.4:n.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613243.1:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000478295.1:n.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001005242.2:c.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001005242.2:n.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_004572.3:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_398t1:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_004563.2:n.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001005242.3:c.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001005242.2:n.2168-22_2168-21insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_004572.4:c.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_004563.2:n.2300-22_2300-21insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...