Canonical Allele Identifier: CA384357795

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949143A>G (hg19) ; chr12:g.32796209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796209A>G , CM000674.2:g.32796209A>G	GRCh38
NC_000012.11:g.32949143A>G , CM000674.1:g.32949143A>G	GRCh37
NC_000012.10:g.32840410A>G	NCBI36
NG_009000.1:g.105638T>C , LRG_398:g.105638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.760T>C
ENST00000700557.2:n.349T>C
ENST00000700559.2:c.2168-3478T>C	ENSP00000515065.2:n.2168-3478T>C
ENST00000546498.2:n.944T>C
ENST00000549461.2:n.749T>C
ENST00000700555.1:c.688T>C	ENSP00000515062.1:p.Tyr230His
ENST00000700556.1:c.728T>C
ENST00000700557.1:c.268T>C	ENSP00000515064.1:p.Tyr90His
ENST00000700558.1:n.471T>C
ENST00000700559.1:c.1383-3478T>C
ENST00000700560.1:n.1472T>C
ENST00000700561.1:n.1598T>C
ENST00000070846.11:c.2389T>C	ENSP00000070846.6:p.Tyr797His
ENST00000340811.9:c.2257T>C MANE Select	ENSP00000342800.5:p.Tyr753His
ENST00000070846.10:c.2389T>C	ENSP00000070846.6:p.Tyr797His
ENST00000340811.8:c.2257T>C	ENSP00000342800.4:p.Tyr753His
ENST00000613243.1:c.2389T>C	ENSP00000478295.1:p.Tyr797His
NM_001005242.2:c.2257T>C	NP_001005242.2:p.Tyr753His
NM_004572.3:c.2389T>C , LRG_398t1:c.2389T>C	NP_004563.2:p.Tyr797His
NM_001005242.3:c.2257T>C MANE Select	NP_001005242.2:p.Tyr753His
NM_004572.4:c.2389T>C	NP_004563.2:p.Tyr797His