Canonical Allele Identifier: CA384359556

Gene: PKP2

Linked Data

• dbSNP Id: rs2137725411
• MyVariant Identifiers: chr12:g.32955395C>G (hg19) ; chr12:g.32802461C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802461C>G , CM000674.2:g.32802461C>G	GRCh38
NC_000012.11:g.32955395C>G , CM000674.1:g.32955395C>G	GRCh37
NC_000012.10:g.32846662C>G	NCBI36
NG_009000.1:g.99386G>C , LRG_398:g.99386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.612G>C
ENST00000700557.2:n.201G>C
ENST00000700559.2:c.2109G>C	ENSP00000515065.2:p.Lys703Asn
ENST00000546498.2:n.796G>C
ENST00000549461.2:n.648G>C
ENST00000700555.1:c.540G>C	ENSP00000515062.1:p.Lys180Asn
ENST00000700556.1:c.580G>C
ENST00000700557.1:c.120G>C	ENSP00000515064.1:p.Lys40Asn
ENST00000700558.1:n.323G>C
ENST00000700559.1:c.1324G>C
ENST00000700560.1:n.1324G>C
ENST00000700561.1:n.1450G>C
ENST00000070846.11:c.2241G>C	ENSP00000070846.6:p.Lys747Asn
ENST00000340811.9:c.2109G>C MANE Select	ENSP00000342800.5:p.Lys703Asn
ENST00000070846.10:c.2241G>C	ENSP00000070846.6:p.Lys747Asn
ENST00000340811.8:c.2109G>C	ENSP00000342800.4:p.Lys703Asn
ENST00000549461.1:n.555G>C
ENST00000613243.1:c.2241G>C	ENSP00000478295.1:p.Lys747Asn
NM_001005242.2:c.2109G>C	NP_001005242.2:p.Lys703Asn
NM_004572.3:c.2241G>C , LRG_398t1:c.2241G>C	NP_004563.2:p.Lys747Asn
NM_001005242.3:c.2109G>C MANE Select	NP_001005242.2:p.Lys703Asn
NM_004572.4:c.2241G>C	NP_004563.2:p.Lys747Asn