Canonical Allele Identifier: CA389281104

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146235-C-A
• MyVariant Identifiers: chr14:g.24615444C>A (hg19) ; chr14:g.24146235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146235C>A , CM000676.2:g.24146235C>A	GRCh38
NC_000014.8:g.24615444C>A , CM000676.1:g.24615444C>A	GRCh37
NC_000014.7:g.23685284C>A	NCBI36
NG_042234.1:g.4361C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.54G>T MANE Select	ENSP00000216802.5:p.Glu18Asp
ENST00000216802.9:c.54G>T	ENSP00000216802.5:p.Glu18Asp
ENST00000471700.6:n.52G>T
ENST00000558273.5:c.54G>T	ENSP00000453195.1:p.Glu18Asp
ENST00000558931.5:n.731G>T
ENST00000559056.5:c.-178G>T	ENSP00000452940.1:n.-178G>T
ENST00000559453.5:n.4G>T
ENST00000559493.5:n.51G>T
ENST00000559613.1:n.102G>T
ENST00000560370.3:c.54G>T	ENSP00000453161.1:p.Glu18Asp
ENST00000560410.5:c.48+299G>T	ENSP00000453487.1:n.48+299G>T
ENST00000560592.5:n.94G>T
ENST00000560788.1:n.69G>T
ENST00000615264.4:c.54G>T	ENSP00000484569.1:p.Glu18Asp
ENST00000630027.1:c.54G>T	ENSP00000485798.1:p.Glu18Asp
NM_002818.2:c.54G>T	NP_002809.2:p.Glu18Asp
XM_006720213.1:c.-302G>T	XP_006720276.1:n.-302G>T
XM_006720213.2:c.-302G>T	XP_006720276.1:n.-302G>T
NM_002818.3:c.54G>T MANE Select	NP_002809.2:p.Glu18Asp