Canonical Allele Identifier: CA389281148

Gene: PSME2

Linked Data

• dbSNP Id: rs1463407019
• gnomAD v2: 14-24615449-C-T
• gnomAD v3: 14-24146240-C-T
• gnomAD v4: 14-24146240-C-T
• MyVariant Identifiers: chr14:g.24615449C>T (hg19) ; chr14:g.24146240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146240C>T , CM000676.2:g.24146240C>T	GRCh38
NC_000014.8:g.24615449C>T , CM000676.1:g.24615449C>T	GRCh37
NC_000014.7:g.23685289C>T	NCBI36
NG_042234.1:g.4366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.49G>A MANE Select	ENSP00000216802.5:p.Val17Met
ENST00000216802.9:c.49G>A	ENSP00000216802.5:p.Val17Met
ENST00000471700.6:n.47G>A
ENST00000558273.5:c.49G>A	ENSP00000453195.1:p.Val17Met
ENST00000558931.5:n.726G>A
ENST00000559056.5:c.-183G>A	ENSP00000452940.1:n.-183G>A
ENST00000559493.5:n.46G>A
ENST00000559613.1:n.97G>A
ENST00000560370.3:c.49G>A	ENSP00000453161.1:p.Val17Met
ENST00000560410.5:c.48+294G>A	ENSP00000453487.1:n.48+294G>A
ENST00000560592.5:n.89G>A
ENST00000560788.1:n.64G>A
ENST00000615264.4:c.49G>A	ENSP00000484569.1:p.Val17Met
ENST00000630027.1:c.49G>A	ENSP00000485798.1:p.Val17Met
NM_002818.2:c.49G>A	NP_002809.2:p.Val17Met
XM_006720213.1:c.-307G>A	XP_006720276.1:n.-307G>A
XM_006720213.2:c.-307G>A	XP_006720276.1:n.-307G>A
NM_002818.3:c.49G>A MANE Select	NP_002809.2:p.Val17Met