Canonical Allele Identifier: CA961126310

Gene: PSME2

Linked Data

• gnomAD v3: 14-24146227-CTGAA-C
• gnomAD v4: 14-24146227-CTGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146228_24146231del , CM000676.2:g.24146228_24146231del	GRCh38
NC_000014.8:g.24615437_24615440del , CM000676.1:g.24615437_24615440del	GRCh37
NC_000014.7:g.23685277_23685280del	NCBI36
NG_042234.1:g.4354_4357del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.58_61del MANE Select	ENSP00000216802.5:p.Phe20AspfsTer23
ENST00000216802.9:c.58_61del	ENSP00000216802.5:p.Phe20AspfsTer23
ENST00000471700.6:n.56_59del
ENST00000558273.5:c.58_61del	ENSP00000453195.1:p.Phe20AspfsTer?
ENST00000558931.5:n.735_738del
ENST00000559056.5:c.-174_-171del	ENSP00000452940.1:n.-174_-171del
ENST00000559453.5:n.8_11del
ENST00000559493.5:n.55_58del
ENST00000559613.1:n.106_109del
ENST00000560370.3:c.58_61del	ENSP00000453161.1:p.Phe20AspfsTer?
ENST00000560410.5:c.48+303_48+306del	ENSP00000453487.1:n.48+303_48+306del
ENST00000560592.5:n.98_101del
ENST00000560788.1:n.73_76del
ENST00000615264.4:c.58_61del	ENSP00000484569.1:p.Phe20AspfsTer23
ENST00000630027.1:c.58_61del	ENSP00000485798.1:p.Phe20AspfsTer?
NM_002818.2:c.58_61del	NP_002809.2:p.Phe20AspfsTer23
XM_006720213.1:c.-298_-295del	XP_006720276.1:n.-298_-295del
XM_006720213.2:c.-298_-295del	XP_006720276.1:n.-298_-295del
NM_002818.3:c.58_61del MANE Select	NP_002809.2:p.Phe20AspfsTer23