Canonical Allele Identifier: CA384360066

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955478C>G (hg19) ; chr12:g.32802544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802544C>G , CM000674.2:g.32802544C>G	GRCh38
NC_000012.11:g.32955478C>G , CM000674.1:g.32955478C>G	GRCh37
NC_000012.10:g.32846745C>G	NCBI36
NG_009000.1:g.99303G>C , LRG_398:g.99303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.529G>C
ENST00000700557.2:n.118G>C
ENST00000700559.2:c.2026G>C	ENSP00000515065.2:p.Val676Leu
ENST00000546498.2:n.713G>C
ENST00000549461.2:n.565G>C
ENST00000700555.1:c.457G>C	ENSP00000515062.1:p.Val153Leu
ENST00000700556.1:c.497G>C
ENST00000700557.1:c.37G>C	ENSP00000515064.1:p.Val13Leu
ENST00000700558.1:n.240G>C
ENST00000700559.1:c.1241G>C
ENST00000700560.1:n.1241G>C
ENST00000700561.1:n.1367G>C
ENST00000070846.11:c.2158G>C	ENSP00000070846.6:p.Val720Leu
ENST00000340811.9:c.2026G>C MANE Select	ENSP00000342800.5:p.Val676Leu
ENST00000070846.10:c.2158G>C	ENSP00000070846.6:p.Val720Leu
ENST00000340811.8:c.2026G>C	ENSP00000342800.4:p.Val676Leu
ENST00000549461.1:n.472G>C
ENST00000613243.1:c.2158G>C	ENSP00000478295.1:p.Val720Leu
NM_001005242.2:c.2026G>C	NP_001005242.2:p.Val676Leu
NM_004572.3:c.2158G>C , LRG_398t1:c.2158G>C	NP_004563.2:p.Val720Leu
NM_001005242.3:c.2026G>C MANE Select	NP_001005242.2:p.Val676Leu
NM_004572.4:c.2158G>C	NP_004563.2:p.Val720Leu