Canonical Allele Identifier: CA389281116

Gene: PSME2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.53A>C MANE Select	ENSP00000216802.5:p.Glu18Ala
ENST00000216802.9:c.53A>C	ENSP00000216802.5:p.Glu18Ala
ENST00000471700.6:n.51A>C
ENST00000558273.5:c.53A>C	ENSP00000453195.1:p.Glu18Ala
ENST00000558931.5:n.730A>C
ENST00000559056.5:c.-179A>C	ENSP00000452940.1:n.-179A>C
ENST00000559453.5:n.3A>C
ENST00000559493.5:n.50A>C
ENST00000559613.1:n.101A>C
ENST00000560370.3:c.53A>C	ENSP00000453161.1:p.Glu18Ala
ENST00000560410.5:c.48+298A>C	ENSP00000453487.1:n.48+298A>C
ENST00000560592.5:n.93A>C
ENST00000560788.1:n.68A>C
ENST00000615264.4:c.53A>C	ENSP00000484569.1:p.Glu18Ala
ENST00000630027.1:c.53A>C	ENSP00000485798.1:p.Glu18Ala
NM_002818.2:c.53A>C	NP_002809.2:p.Glu18Ala
XM_006720213.1:c.-303A>C	XP_006720276.1:n.-303A>C
XM_006720213.2:c.-303A>C	XP_006720276.1:n.-303A>C
NM_002818.3:c.53A>C MANE Select	NP_002809.2:p.Glu18Ala