Canonical Allele Identifier: CA384361775

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974364C>A (hg19) ; chr12:g.32821430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821430C>A , CM000674.2:g.32821430C>A	GRCh38
NC_000012.11:g.32974364C>A , CM000674.1:g.32974364C>A	GRCh37
NC_000012.10:g.32865631C>A	NCBI36
NG_009000.1:g.80417G>T , LRG_398:g.80417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.442G>T
ENST00000700559.2:c.1939G>T	ENSP00000515065.2:p.Ala647Ser
ENST00000700563.2:c.1939G>T	ENSP00000515066.2:p.Ala647Ser
ENST00000546498.2:n.626G>T
ENST00000549461.2:n.478G>T
ENST00000700555.1:c.370G>T	ENSP00000515062.1:p.Ala124Ser
ENST00000700556.1:c.410G>T
ENST00000700558.1:n.153G>T
ENST00000700559.1:c.1154G>T
ENST00000700560.1:n.1154G>T
ENST00000700561.1:n.1280G>T
ENST00000700562.1:n.477G>T
ENST00000700563.1:c.1893G>T
ENST00000700564.1:n.1943G>T
ENST00000070846.11:c.2071G>T	ENSP00000070846.6:p.Ala691Ser
ENST00000340811.9:c.1939G>T MANE Select	ENSP00000342800.5:p.Ala647Ser
ENST00000070846.10:c.2071G>T	ENSP00000070846.6:p.Ala691Ser
ENST00000340811.8:c.1939G>T	ENSP00000342800.4:p.Ala647Ser
ENST00000549461.1:n.385G>T
ENST00000552612.5:n.360G>T
ENST00000613243.1:c.2071G>T	ENSP00000478295.1:p.Ala691Ser
NM_001005242.2:c.1939G>T	NP_001005242.2:p.Ala647Ser
NM_004572.3:c.2071G>T , LRG_398t1:c.2071G>T	NP_004563.2:p.Ala691Ser
NM_001005242.3:c.1939G>T MANE Select	NP_001005242.2:p.Ala647Ser
NM_004572.4:c.2071G>T	NP_004563.2:p.Ala691Ser