Canonical Allele Identifier: CA479176562

Gene: PKP2

Linked Data

• gnomAD v4: 12-32824072-G-A
• MyVariant Identifiers: chr12:g.32977006G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824072G>A , CM000674.2:g.32824072G>A	GRCh38
NC_000012.11:g.32977006G>A , CM000674.1:g.32977006G>A	GRCh37
NC_000012.10:g.32868273G>A	NCBI36
NG_009000.1:g.77775C>T , LRG_398:g.77775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.159C>T
ENST00000700559.2:c.1647C>T	ENSP00000515065.2:p.Thr549=
ENST00000700563.2:c.1647C>T	ENSP00000515066.2:p.Thr549=
ENST00000546498.2:n.334C>T
ENST00000700555.1:c.87C>T	ENSP00000515062.1:p.Thr29=
ENST00000700556.1:c.118C>T
ENST00000700559.1:c.862C>T
ENST00000700560.1:n.862C>T
ENST00000700561.1:n.988C>T
ENST00000700563.1:c.1601C>T
ENST00000700564.1:n.1651C>T
ENST00000070846.11:c.1779C>T	ENSP00000070846.6:p.Thr593=
ENST00000340811.9:c.1647C>T MANE Select	ENSP00000342800.5:p.Thr549=
ENST00000070846.10:c.1779C>T	ENSP00000070846.6:p.Thr593=
ENST00000340811.8:c.1647C>T	ENSP00000342800.4:p.Thr549=
ENST00000546498.1:n.334C>T
ENST00000552612.5:n.68C>T
ENST00000613243.1:c.1779C>T	ENSP00000478295.1:p.Thr593=
NM_001005242.2:c.1647C>T	NP_001005242.2:p.Thr549=
NM_004572.3:c.1779C>T , LRG_398t1:c.1779C>T	NP_004563.2:p.Thr593=
NM_001005242.3:c.1647C>T MANE Select	NP_001005242.2:p.Thr549=
NM_004572.4:c.1779C>T	NP_004563.2:p.Thr593=