Canonical Allele Identifier: CA2026396960
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822512G= , CM000674.2:g.32822512G= GRCh38
NC_000012.11:g.32975446G= , CM000674.1:g.32975446G= GRCh37
NC_000012.10:g.32866713G= NCBI36
NG_009000.1:g.79335C= , LRG_398:g.79335C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.306C=
ENST00000700559.2:c.1794C= ENSP00000515065.2:p.Asn598=
ENST00000700563.2:c.1794C= ENSP00000515066.2:p.Asn598=
ENST00000546498.2:n.481C=
ENST00000700555.1:c.234C= ENSP00000515062.1:p.Asn78=
ENST00000700556.1:c.265C=
ENST00000700559.1:c.1009C=
ENST00000700560.1:n.1009C=
ENST00000700561.1:n.1135C=
ENST00000700563.1:c.1748C=
ENST00000700564.1:n.1798C=
ENST00000070846.11:c.1926C= ENSP00000070846.6:p.Asn642=
ENST00000340811.9:c.1794C= MANE Select ENSP00000342800.5:p.Asn598=
ENST00000070846.10:c.1926C= ENSP00000070846.6:p.Asn642=
ENST00000340811.8:c.1794C= ENSP00000342800.4:p.Asn598=
ENST00000546498.1:n.481C=
ENST00000552612.5:n.215C=
ENST00000613243.1:c.1926C= ENSP00000478295.1:p.Asn642=
NM_001005242.2:c.1794C= NP_001005242.2:p.Asn598=
NM_004572.3:c.1926C= , LRG_398t1:c.1926C= NP_004563.2:p.Asn642=
NM_001005242.3:c.1794C= MANE Select NP_001005242.2:p.Asn598=
NM_004572.4:c.1926C= NP_004563.2:p.Asn642=