Canonical Allele Identifier: CA030910

Gene: PKP2

Linked Data

• dbSNP Id: rs751151050
• ExAC: 12:32975609 T / TA
• MyVariant Identifiers: chr12:g.32975609_32975610insA (hg19) ; chr12:g.32822675_32822676insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822675_32822676insA , CM000674.2:g.32822675_32822676insA	GRCh38
NC_000012.11:g.32975609_32975610insA , CM000674.1:g.32975609_32975610insA	GRCh37
NC_000012.10:g.32866876_32866877insA	NCBI36
NG_009000.1:g.79171_79172insT , LRG_398:g.79171_79172insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-45_187-44insT
ENST00000700559.2:c.1675-45_1675-44insT	ENSP00000515065.2:n.1675-45_1675-44insT
ENST00000700563.2:c.1675-45_1675-44insT	ENSP00000515066.2:n.1675-45_1675-44insT
ENST00000546498.2:n.362-45_362-44insT
ENST00000700555.1:c.115-45_115-44insT	ENSP00000515062.1:n.115-45_115-44insT
ENST00000700556.1:c.146-45_146-44insT
ENST00000700559.1:c.890-45_890-44insT
ENST00000700560.1:n.890-45_890-44insT
ENST00000700561.1:n.1016-45_1016-44insT
ENST00000700563.1:c.1629-45_1629-44insT
ENST00000700564.1:n.1679-45_1679-44insT
ENST00000070846.11:c.1807-45_1807-44insT	ENSP00000070846.6:n.1807-45_1807-44insT
ENST00000340811.9:c.1675-45_1675-44insT MANE Select	ENSP00000342800.5:n.1675-45_1675-44insT
ENST00000070846.10:c.1807-45_1807-44insT	ENSP00000070846.6:n.1807-45_1807-44insT
ENST00000340811.8:c.1675-45_1675-44insT	ENSP00000342800.4:n.1675-45_1675-44insT
ENST00000546498.1:n.362-45_362-44insT
ENST00000552612.5:n.96-45_96-44insT
ENST00000613243.1:c.1807-45_1807-44insT	ENSP00000478295.1:n.1807-45_1807-44insT
NM_001005242.2:c.1675-45_1675-44insT	NP_001005242.2:n.1675-45_1675-44insT
NM_004572.3:c.1807-45_1807-44insT , LRG_398t1:c.1807-45_1807-44insT	NP_004563.2:n.1807-45_1807-44insT
NM_001005242.3:c.1675-45_1675-44insT MANE Select	NP_001005242.2:n.1675-45_1675-44insT
NM_004572.4:c.1807-45_1807-44insT	NP_004563.2:n.1807-45_1807-44insT