Canonical Allele Identifier: CA384362646
Gene: PKP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822483C>T , CM000674.2:g.32822483C>T GRCh38
NC_000012.11:g.32975417C>T , CM000674.1:g.32975417C>T GRCh37
NC_000012.10:g.32866684C>T NCBI36
NG_009000.1:g.79364G>A , LRG_398:g.79364G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.335G>A
ENST00000700559.2:c.1823G>A ENSP00000515065.2:p.Ser608Asn
ENST00000700563.2:c.1823G>A ENSP00000515066.2:p.Ser608Asn
ENST00000546498.2:n.510G>A
ENST00000700555.1:c.263G>A ENSP00000515062.1:p.Ser88Asn
ENST00000700556.1:c.294G>A
ENST00000700559.1:c.1038G>A
ENST00000700560.1:n.1038G>A
ENST00000700561.1:n.1164G>A
ENST00000700563.1:c.1777G>A
ENST00000700564.1:n.1827G>A
ENST00000070846.11:c.1955G>A ENSP00000070846.6:p.Ser652Asn
ENST00000340811.9:c.1823G>A MANE Select ENSP00000342800.5:p.Ser608Asn
ENST00000070846.10:c.1955G>A ENSP00000070846.6:p.Ser652Asn
ENST00000340811.8:c.1823G>A ENSP00000342800.4:p.Ser608Asn
ENST00000546498.1:n.510G>A
ENST00000552612.5:n.244G>A
ENST00000613243.1:c.1955G>A ENSP00000478295.1:p.Ser652Asn
NM_001005242.2:c.1823G>A NP_001005242.2:p.Ser608Asn
NM_004572.3:c.1955G>A , LRG_398t1:c.1955G>A NP_004563.2:p.Ser652Asn
NM_001005242.3:c.1823G>A MANE Select NP_001005242.2:p.Ser608Asn
NM_004572.4:c.1955G>A NP_004563.2:p.Ser652Asn