Canonical Allele Identifier: CA479176423

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975548C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822614C>A , CM000674.2:g.32822614C>A	GRCh38
NC_000012.11:g.32975548C>A , CM000674.1:g.32975548C>A	GRCh37
NC_000012.10:g.32866815C>A	NCBI36
NG_009000.1:g.79233G>T , LRG_398:g.79233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.204G>T
ENST00000700559.2:c.1692G>T	ENSP00000515065.2:p.Val564=
ENST00000700563.2:c.1692G>T	ENSP00000515066.2:p.Val564=
ENST00000546498.2:n.379G>T
ENST00000700555.1:c.132G>T	ENSP00000515062.1:p.Val44=
ENST00000700556.1:c.163G>T
ENST00000700559.1:c.907G>T
ENST00000700560.1:n.907G>T
ENST00000700561.1:n.1033G>T
ENST00000700563.1:c.1646G>T
ENST00000700564.1:n.1696G>T
ENST00000070846.11:c.1824G>T	ENSP00000070846.6:p.Val608=
ENST00000340811.9:c.1692G>T MANE Select	ENSP00000342800.5:p.Val564=
ENST00000070846.10:c.1824G>T	ENSP00000070846.6:p.Val608=
ENST00000340811.8:c.1692G>T	ENSP00000342800.4:p.Val564=
ENST00000546498.1:n.379G>T
ENST00000552612.5:n.113G>T
ENST00000613243.1:c.1824G>T	ENSP00000478295.1:p.Val608=
NM_001005242.2:c.1692G>T	NP_001005242.2:p.Val564=
NM_004572.3:c.1824G>T , LRG_398t1:c.1824G>T	NP_004563.2:p.Val608=
NM_001005242.3:c.1692G>T MANE Select	NP_001005242.2:p.Val564=
NM_004572.4:c.1824G>T	NP_004563.2:p.Val608=