Canonical Allele Identifier: CA384357548

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949062C>A (hg19) ; chr12:g.32796128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796128C>A , CM000674.2:g.32796128C>A	GRCh38
NC_000012.11:g.32949062C>A , CM000674.1:g.32949062C>A	GRCh37
NC_000012.10:g.32840329C>A	NCBI36
NG_009000.1:g.105719G>T , LRG_398:g.105719G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.841G>T
ENST00000700557.2:n.430G>T
ENST00000700559.2:c.2168-3397G>T	ENSP00000515065.2:n.2168-3397G>T
ENST00000546498.2:n.1025G>T
ENST00000549461.2:n.830G>T
ENST00000700555.1:c.769G>T	ENSP00000515062.1:p.Ala257Ser
ENST00000700556.1:c.809G>T
ENST00000700557.1:c.349G>T	ENSP00000515064.1:p.Ala117Ser
ENST00000700558.1:n.552G>T
ENST00000700559.1:c.1383-3397G>T
ENST00000700560.1:n.1553G>T
ENST00000700561.1:n.1679G>T
ENST00000070846.11:c.2470G>T	ENSP00000070846.6:p.Ala824Ser
ENST00000340811.9:c.2338G>T MANE Select	ENSP00000342800.5:p.Ala780Ser
ENST00000070846.10:c.2470G>T	ENSP00000070846.6:p.Ala824Ser
ENST00000340811.8:c.2338G>T	ENSP00000342800.4:p.Ala780Ser
ENST00000613243.1:c.2468G>T	ENSP00000478295.1:p.Gly823Val
NM_001005242.2:c.2338G>T	NP_001005242.2:p.Ala780Ser
NM_004572.3:c.2470G>T , LRG_398t1:c.2470G>T	NP_004563.2:p.Ala824Ser
NM_001005242.3:c.2338G>T MANE Select	NP_001005242.2:p.Ala780Ser
NM_004572.4:c.2470G>T	NP_004563.2:p.Ala824Ser