Canonical Allele Identifier: CA2624317311

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146231-A-ATGATACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146231_24146232insTGATACGGC , CM000676.2:g.24146231_24146232insTGATACGGC	GRCh38
NC_000014.8:g.24615440_24615441insTGATACGGC , CM000676.1:g.24615440_24615441insTGATACGGC	GRCh37
NC_000014.7:g.23685280_23685281insTGATACGGC	NCBI36
NG_042234.1:g.4357_4358insTGATACGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.57_58insGCCGTATCA MANE Select	ENSP00000216802.5:p.Val19_Phe20insAlaValS...
ENST00000216802.9:c.57_58insGCCGTATCA	ENSP00000216802.5:p.Val19_Phe20insAlaValS...
ENST00000471700.6:n.55_56insGCCGTATCA
ENST00000558273.5:c.57_58insGCCGTATCA	ENSP00000453195.1:p.Val19_Phe20insAlaValS...
ENST00000558931.5:n.734_735insGCCGTATCA
ENST00000559056.5:c.-175_-174insGCCGTATCA	ENSP00000452940.1:n.-175_-174insGCCGTATCA...
ENST00000559453.5:n.7_8insGCCGTATCA
ENST00000559493.5:n.54_55insGCCGTATCA
ENST00000559613.1:n.105_106insGCCGTATCA
ENST00000560370.3:c.57_58insGCCGTATCA	ENSP00000453161.1:p.Val19_Phe20insAlaValS...
ENST00000560410.5:c.48+302_48+303insGCCGTATCA	ENSP00000453487.1:n.48+302_48+303insGCCGT...
ENST00000560592.5:n.97_98insGCCGTATCA
ENST00000560788.1:n.72_73insGCCGTATCA
ENST00000615264.4:c.57_58insGCCGTATCA	ENSP00000484569.1:p.Val19_Phe20insAlaValS...
ENST00000630027.1:c.57_58insGCCGTATCA	ENSP00000485798.1:p.Val19_Phe20insAlaValS...
NM_002818.2:c.57_58insGCCGTATCA	NP_002809.2:p.Val19_Phe20insAlaValSer
XM_006720213.1:c.-299_-298insGCCGTATCA	XP_006720276.1:n.-299_-298insGCCGTATCA
XM_006720213.2:c.-299_-298insGCCGTATCA	XP_006720276.1:n.-299_-298insGCCGTATCA
NM_002818.3:c.57_58insGCCGTATCA MANE Select	NP_002809.2:p.Val19_Phe20insAlaValSer