Canonical Allele Identifier: CA479175029

Gene: PKP2

Linked Data

• gnomAD v4: 12-32879028-A-G
• MyVariant Identifiers: chr12:g.33031962A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879028A>G , CM000674.2:g.32879028A>G	GRCh38
NC_000012.11:g.33031962A>G , CM000674.1:g.33031962A>G	GRCh37
NC_000012.10:g.32923229A>G	NCBI36
NG_009000.1:g.22819T>C , LRG_398:g.22819T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.228T>C	ENSP00000515065.2:p.Asn76=
ENST00000700563.2:c.228T>C	ENSP00000515066.2:p.Asn76=
ENST00000700563.1:c.182T>C
ENST00000700564.1:n.232T>C
ENST00000700565.1:n.81T>C
ENST00000070846.11:c.228T>C	ENSP00000070846.6:p.Asn76=
ENST00000340811.9:c.228T>C MANE Select	ENSP00000342800.5:p.Asn76=
ENST00000070846.10:c.228T>C	ENSP00000070846.6:p.Asn76=
ENST00000340811.8:c.228T>C	ENSP00000342800.4:p.Asn76=
ENST00000613243.1:c.228T>C	ENSP00000478295.1:p.Asn76=
NM_001005242.2:c.228T>C	NP_001005242.2:p.Asn76=
NM_004572.3:c.228T>C , LRG_398t1:c.228T>C	NP_004563.2:p.Asn76=
NM_001005242.3:c.228T>C MANE Select	NP_001005242.2:p.Asn76=
NM_004572.4:c.228T>C	NP_004563.2:p.Asn76=