Canonical Allele Identifier: CA384362810

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878134C>G , CM000674.2:g.32878134C>G	GRCh38
NC_000012.11:g.33031068C>G , CM000674.1:g.33031068C>G	GRCh37
NC_000012.10:g.32922335C>G	NCBI36
NG_009000.1:g.23713G>C , LRG_398:g.23713G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.746G>C MANE Select	NP_001005242.2:p.Ser249Thr
ENST00000340811.9:c.746G>C MANE Select	ENSP00000342800.5:p.Ser249Thr
NM_001005242.2:c.746G>C	NP_001005242.2:p.Ser249Thr
NM_004572.3:c.746G>C , LRG_398t1:c.746G>C	NP_004563.2:p.Ser249Thr
NM_004572.4:c.746G>C	NP_004563.2:p.Ser249Thr
ENST00000070846.10:c.746G>C	ENSP00000070846.6:p.Ser249Thr
ENST00000070846.11:c.746G>C	ENSP00000070846.6:p.Ser249Thr
ENST00000340811.8:c.746G>C	ENSP00000342800.4:p.Ser249Thr
ENST00000613243.1:c.746G>C	ENSP00000478295.1:p.Ser249Thr
ENST00000700559.2:c.746G>C	ENSP00000515065.2:p.Ser249Thr
ENST00000700561.1:n.87G>C
ENST00000700563.1:c.700G>C
ENST00000700563.2:c.746G>C	ENSP00000515066.2:p.Ser249Thr
ENST00000700564.1:n.750G>C
ENST00000700565.1:n.599G>C