Canonical Allele Identifier: CA479176163

Gene: PKP2

Linked Data

• gnomAD v4: 12-32821470-C-T
• MyVariant Identifiers: chr12:g.32974404C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821470C>T , CM000674.2:g.32821470C>T	GRCh38
NC_000012.11:g.32974404C>T , CM000674.1:g.32974404C>T	GRCh37
NC_000012.10:g.32865671C>T	NCBI36
NG_009000.1:g.80377G>A , LRG_398:g.80377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.402G>A
ENST00000700559.2:c.1899G>A	ENSP00000515065.2:p.Leu633=
ENST00000700563.2:c.1899G>A	ENSP00000515066.2:p.Leu633=
ENST00000546498.2:n.586G>A
ENST00000549461.2:n.438G>A
ENST00000700555.1:c.330G>A	ENSP00000515062.1:p.Leu110=
ENST00000700556.1:c.370G>A
ENST00000700558.1:n.113G>A
ENST00000700559.1:c.1114G>A
ENST00000700560.1:n.1114G>A
ENST00000700561.1:n.1240G>A
ENST00000700562.1:n.437G>A
ENST00000700563.1:c.1853G>A
ENST00000700564.1:n.1903G>A
ENST00000070846.11:c.2031G>A	ENSP00000070846.6:p.Leu677=
ENST00000340811.9:c.1899G>A MANE Select	ENSP00000342800.5:p.Leu633=
ENST00000070846.10:c.2031G>A	ENSP00000070846.6:p.Leu677=
ENST00000340811.8:c.1899G>A	ENSP00000342800.4:p.Leu633=
ENST00000546498.1:n.586G>A
ENST00000549461.1:n.345G>A
ENST00000552612.5:n.320G>A
ENST00000613243.1:c.2031G>A	ENSP00000478295.1:p.Leu677=
NM_001005242.2:c.1899G>A	NP_001005242.2:p.Leu633=
NM_004572.3:c.2031G>A , LRG_398t1:c.2031G>A	NP_004563.2:p.Leu677=
NM_001005242.3:c.1899G>A MANE Select	NP_001005242.2:p.Leu633=
NM_004572.4:c.2031G>A	NP_004563.2:p.Leu677=