Canonical Allele Identifier: CA2026350875
Community Standard Title: NM_001005242.3(PKP2):c.746G= (p.Ser249=)
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878134C= , CM000674.2:g.32878134C= GRCh38
NC_000012.11:g.33031068C= , CM000674.1:g.33031068C= GRCh37
NC_000012.10:g.32922335C= NCBI36
NG_009000.1:g.23713G= , LRG_398:g.23713G=

Transcript Alleles

HGVS Amino-acid Change
NM_001005242.3:c.746G= MANE Select NP_001005242.2:p.Ser249=
ENST00000340811.9:c.746G= MANE Select ENSP00000342800.5:p.Ser249=
NM_001005242.2:c.746G= NP_001005242.2:p.Ser249=
NM_004572.3:c.746G= , LRG_398t1:c.746G= NP_004563.2:p.Ser249=
NM_004572.4:c.746G= NP_004563.2:p.Ser249=
ENST00000070846.10:c.746G= ENSP00000070846.6:p.Ser249=
ENST00000070846.11:c.746G= ENSP00000070846.6:p.Ser249=
ENST00000340811.8:c.746G= ENSP00000342800.4:p.Ser249=
ENST00000613243.1:c.746G= ENSP00000478295.1:p.Ser249=
ENST00000700559.2:c.746G= ENSP00000515065.2:p.Ser249=
ENST00000700561.1:n.87G=
ENST00000700563.1:c.700G=
ENST00000700563.2:c.746G= ENSP00000515066.2:p.Ser249=
ENST00000700564.1:n.750G=
ENST00000700565.1:n.599G=