Canonical Allele Identifier: CA384359831

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955427T>G (hg19) ; chr12:g.32802493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802493T>G , CM000674.2:g.32802493T>G	GRCh38
NC_000012.11:g.32955427T>G , CM000674.1:g.32955427T>G	GRCh37
NC_000012.10:g.32846694T>G	NCBI36
NG_009000.1:g.99354A>C , LRG_398:g.99354A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.580A>C
ENST00000700557.2:n.169A>C
ENST00000700559.2:c.2077A>C	ENSP00000515065.2:p.Met693Leu
ENST00000546498.2:n.764A>C
ENST00000549461.2:n.616A>C
ENST00000700555.1:c.508A>C	ENSP00000515062.1:p.Met170Leu
ENST00000700556.1:c.548A>C
ENST00000700557.1:c.88A>C	ENSP00000515064.1:p.Met30Leu
ENST00000700558.1:n.291A>C
ENST00000700559.1:c.1292A>C
ENST00000700560.1:n.1292A>C
ENST00000700561.1:n.1418A>C
ENST00000070846.11:c.2209A>C	ENSP00000070846.6:p.Met737Leu
ENST00000340811.9:c.2077A>C MANE Select	ENSP00000342800.5:p.Met693Leu
ENST00000070846.10:c.2209A>C	ENSP00000070846.6:p.Met737Leu
ENST00000340811.8:c.2077A>C	ENSP00000342800.4:p.Met693Leu
ENST00000549461.1:n.523A>C
ENST00000613243.1:c.2209A>C	ENSP00000478295.1:p.Met737Leu
NM_001005242.2:c.2077A>C	NP_001005242.2:p.Met693Leu
NM_004572.3:c.2209A>C , LRG_398t1:c.2209A>C	NP_004563.2:p.Met737Leu
NM_001005242.3:c.2077A>C MANE Select	NP_001005242.2:p.Met693Leu
NM_004572.4:c.2209A>C	NP_004563.2:p.Met737Leu