Canonical Allele Identifier: CA479176381

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822557-G-C
• MyVariant Identifiers: chr12:g.32975491G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822557G>C , CM000674.2:g.32822557G>C	GRCh38
NC_000012.11:g.32975491G>C , CM000674.1:g.32975491G>C	GRCh37
NC_000012.10:g.32866758G>C	NCBI36
NG_009000.1:g.79290C>G , LRG_398:g.79290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.261C>G
ENST00000700559.2:c.1749C>G	ENSP00000515065.2:p.Ser583=
ENST00000700563.2:c.1749C>G	ENSP00000515066.2:p.Ser583=
ENST00000546498.2:n.436C>G
ENST00000700555.1:c.189C>G	ENSP00000515062.1:p.Ser63=
ENST00000700556.1:c.220C>G
ENST00000700559.1:c.964C>G
ENST00000700560.1:n.964C>G
ENST00000700561.1:n.1090C>G
ENST00000700563.1:c.1703C>G
ENST00000700564.1:n.1753C>G
ENST00000070846.11:c.1881C>G	ENSP00000070846.6:p.Ser627=
ENST00000340811.9:c.1749C>G MANE Select	ENSP00000342800.5:p.Ser583=
ENST00000070846.10:c.1881C>G	ENSP00000070846.6:p.Ser627=
ENST00000340811.8:c.1749C>G	ENSP00000342800.4:p.Ser583=
ENST00000546498.1:n.436C>G
ENST00000552612.5:n.170C>G
ENST00000613243.1:c.1881C>G	ENSP00000478295.1:p.Ser627=
NM_001005242.2:c.1749C>G	NP_001005242.2:p.Ser583=
NM_004572.3:c.1881C>G , LRG_398t1:c.1881C>G	NP_004563.2:p.Ser627=
NM_001005242.3:c.1749C>G MANE Select	NP_001005242.2:p.Ser583=
NM_004572.4:c.1881C>G	NP_004563.2:p.Ser627=