Canonical Allele Identifier: CA15732038

Gene: PKP2

Linked Data

• ClinVar Variation Id: 672209
• ClinVar RCV Id: RCV000831440
• dbSNP Id: rs7975824
• gnomAD v2: 12-32955647-C-A
• gnomAD v3: 12-32802713-C-A
• gnomAD v4: 12-32802713-C-A
• MyVariant Identifiers: chr12:g.32955647C>A (hg19) ; chr12:g.32802713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802713C>A , CM000674.2:g.32802713C>A	GRCh38
NC_000012.11:g.32955647C>A , CM000674.1:g.32955647C>A	GRCh37
NC_000012.10:g.32846914C>A	NCBI36
NG_009000.1:g.99134G>T , LRG_398:g.99134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-157G>T
ENST00000700557.2:n.106-157G>T
ENST00000700559.2:c.2014-157G>T	ENSP00000515065.2:n.2014-157G>T
ENST00000546498.2:n.701-157G>T
ENST00000549461.2:n.553-157G>T
ENST00000700555.1:c.445-157G>T	ENSP00000515062.1:n.445-157G>T
ENST00000700556.1:c.485-157G>T
ENST00000700557.1:c.25-157G>T	ENSP00000515064.1:n.25-157G>T
ENST00000700558.1:n.228-157G>T
ENST00000700559.1:c.1229-157G>T
ENST00000700560.1:n.1229-157G>T
ENST00000700561.1:n.1355-157G>T
ENST00000070846.11:c.2146-157G>T	ENSP00000070846.6:n.2146-157G>T
ENST00000340811.9:c.2014-157G>T MANE Select	ENSP00000342800.5:n.2014-157G>T
ENST00000070846.10:c.2146-157G>T	ENSP00000070846.6:n.2146-157G>T
ENST00000340811.8:c.2014-157G>T	ENSP00000342800.4:n.2014-157G>T
ENST00000549461.1:n.460-157G>T
ENST00000613243.1:c.2146-157G>T	ENSP00000478295.1:n.2146-157G>T
NM_001005242.2:c.2014-157G>T	NP_001005242.2:n.2014-157G>T
NM_004572.3:c.2146-157G>T , LRG_398t1:c.2146-157G>T	NP_004563.2:n.2146-157G>T
NM_001005242.3:c.2014-157G>T MANE Select	NP_001005242.2:n.2014-157G>T
NM_004572.4:c.2146-157G>T	NP_004563.2:n.2146-157G>T