Canonical Allele Identifier: CA389281047

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146229-G-T
• MyVariant Identifiers: chr14:g.24615438G>T (hg19) ; chr14:g.24146229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146229G>T , CM000676.2:g.24146229G>T	GRCh38
NC_000014.8:g.24615438G>T , CM000676.1:g.24615438G>T	GRCh37
NC_000014.7:g.23685278G>T	NCBI36
NG_042234.1:g.4355G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.60C>A MANE Select	ENSP00000216802.5:p.Phe20Leu
ENST00000216802.9:c.60C>A	ENSP00000216802.5:p.Phe20Leu
ENST00000471700.6:n.58C>A
ENST00000558273.5:c.60C>A	ENSP00000453195.1:p.Phe20Leu
ENST00000558931.5:n.737C>A
ENST00000559056.5:c.-172C>A	ENSP00000452940.1:n.-172C>A
ENST00000559453.5:n.10C>A
ENST00000559493.5:n.57C>A
ENST00000559613.1:n.108C>A
ENST00000560370.3:c.60C>A	ENSP00000453161.1:p.Phe20Leu
ENST00000560410.5:c.48+305C>A	ENSP00000453487.1:n.48+305C>A
ENST00000560592.5:n.100C>A
ENST00000560788.1:n.75C>A
ENST00000615264.4:c.60C>A	ENSP00000484569.1:p.Phe20Leu
ENST00000630027.1:c.60C>A	ENSP00000485798.1:p.Phe20Leu
NM_002818.2:c.60C>A	NP_002809.2:p.Phe20Leu
XM_006720213.1:c.-296C>A	XP_006720276.1:n.-296C>A
XM_006720213.2:c.-296C>A	XP_006720276.1:n.-296C>A
NM_002818.3:c.60C>A MANE Select	NP_002809.2:p.Phe20Leu