Canonical Allele Identifier: CA384367522

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841086-G-A
• MyVariant Identifiers: chr12:g.32994020G>A (hg19) ; chr12:g.32841086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841086G>A , CM000674.2:g.32841086G>A	GRCh38
NC_000012.11:g.32994020G>A , CM000674.1:g.32994020G>A	GRCh37
NC_000012.10:g.32885287G>A	NCBI36
NG_009000.1:g.60761C>T , LRG_398:g.60761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1498C>T	ENSP00000515065.2:p.Pro500Ser
ENST00000700563.2:c.1498C>T	ENSP00000515066.2:p.Pro500Ser
ENST00000700559.1:c.713C>T
ENST00000700560.1:n.713C>T
ENST00000700561.1:n.839C>T
ENST00000700563.1:c.1452C>T
ENST00000700564.1:n.1502C>T
ENST00000700565.1:n.1351C>T
ENST00000070846.11:c.1630C>T	ENSP00000070846.6:p.Pro544Ser
ENST00000340811.9:c.1498C>T MANE Select	ENSP00000342800.5:p.Pro500Ser
ENST00000070846.10:c.1630C>T	ENSP00000070846.6:p.Pro544Ser
ENST00000340811.8:c.1498C>T	ENSP00000342800.4:p.Pro500Ser
ENST00000613243.1:c.1630C>T	ENSP00000478295.1:p.Pro544Ser
NM_001005242.2:c.1498C>T	NP_001005242.2:p.Pro500Ser
NM_004572.3:c.1630C>T , LRG_398t1:c.1630C>T	NP_004563.2:p.Pro544Ser
NM_001005242.3:c.1498C>T MANE Select	NP_001005242.2:p.Pro500Ser
NM_004572.4:c.1630C>T	NP_004563.2:p.Pro544Ser