Canonical Allele Identifier: CA479175020

Gene: PKP2

Linked Data

• gnomAD v4: 12-32879016-G-T
• MyVariant Identifiers: chr12:g.33031950G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879016G>T , CM000674.2:g.32879016G>T	GRCh38
NC_000012.11:g.33031950G>T , CM000674.1:g.33031950G>T	GRCh37
NC_000012.10:g.32923217G>T	NCBI36
NG_009000.1:g.22831C>A , LRG_398:g.22831C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.240C>A	ENSP00000515065.2:p.Thr80=
ENST00000700563.2:c.240C>A	ENSP00000515066.2:p.Thr80=
ENST00000700563.1:c.194C>A
ENST00000700564.1:n.244C>A
ENST00000700565.1:n.93C>A
ENST00000070846.11:c.240C>A	ENSP00000070846.6:p.Thr80=
ENST00000340811.9:c.240C>A MANE Select	ENSP00000342800.5:p.Thr80=
ENST00000070846.10:c.240C>A	ENSP00000070846.6:p.Thr80=
ENST00000340811.8:c.240C>A	ENSP00000342800.4:p.Thr80=
ENST00000613243.1:c.240C>A	ENSP00000478295.1:p.Thr80=
NM_001005242.2:c.240C>A	NP_001005242.2:p.Thr80=
NM_004572.3:c.240C>A , LRG_398t1:c.240C>A	NP_004563.2:p.Thr80=
NM_001005242.3:c.240C>A MANE Select	NP_001005242.2:p.Thr80=
NM_004572.4:c.240C>A	NP_004563.2:p.Thr80=