Canonical Allele Identifier: CA389281114

Gene: PSME2

Linked Data

• MyVariant Identifiers: chr14:g.24615445T>C (hg19) ; chr14:g.24146236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146236T>C , CM000676.2:g.24146236T>C	GRCh38
NC_000014.8:g.24615445T>C , CM000676.1:g.24615445T>C	GRCh37
NC_000014.7:g.23685285T>C	NCBI36
NG_042234.1:g.4362T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.53A>G MANE Select	ENSP00000216802.5:p.Glu18Gly
ENST00000216802.9:c.53A>G	ENSP00000216802.5:p.Glu18Gly
ENST00000471700.6:n.51A>G
ENST00000558273.5:c.53A>G	ENSP00000453195.1:p.Glu18Gly
ENST00000558931.5:n.730A>G
ENST00000559056.5:c.-179A>G	ENSP00000452940.1:n.-179A>G
ENST00000559453.5:n.3A>G
ENST00000559493.5:n.50A>G
ENST00000559613.1:n.101A>G
ENST00000560370.3:c.53A>G	ENSP00000453161.1:p.Glu18Gly
ENST00000560410.5:c.48+298A>G	ENSP00000453487.1:n.48+298A>G
ENST00000560592.5:n.93A>G
ENST00000560788.1:n.68A>G
ENST00000615264.4:c.53A>G	ENSP00000484569.1:p.Glu18Gly
ENST00000630027.1:c.53A>G	ENSP00000485798.1:p.Glu18Gly
NM_002818.2:c.53A>G	NP_002809.2:p.Glu18Gly
XM_006720213.1:c.-303A>G	XP_006720276.1:n.-303A>G
XM_006720213.2:c.-303A>G	XP_006720276.1:n.-303A>G
NM_002818.3:c.53A>G MANE Select	NP_002809.2:p.Glu18Gly