Canonical Allele Identifier: CA2624317268

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146168-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146168C>T , CM000676.2:g.24146168C>T	GRCh38
NC_000014.8:g.24615377C>T , CM000676.1:g.24615377C>T	GRCh37
NC_000014.7:g.23685217C>T	NCBI36
NG_042234.1:g.4294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.81+40G>A MANE Select	ENSP00000216802.5:n.81+40G>A
ENST00000216802.9:c.81+40G>A	ENSP00000216802.5:n.81+40G>A
ENST00000471700.6:n.79+40G>A
ENST00000558273.5:c.81+40G>A	ENSP00000453195.1:n.81+40G>A
ENST00000558931.5:n.798G>A
ENST00000559056.5:c.-151+40G>A	ENSP00000452940.1:n.-151+40G>A
ENST00000559453.5:n.71G>A
ENST00000559493.5:n.78+40G>A
ENST00000559613.1:n.129+40G>A
ENST00000560370.3:c.81+40G>A	ENSP00000453161.1:n.81+40G>A
ENST00000560410.5:c.48+366G>A	ENSP00000453487.1:n.48+366G>A
ENST00000560592.5:n.121+40G>A
ENST00000560788.1:n.136G>A
ENST00000615264.4:c.81+40G>A	ENSP00000484569.1:n.81+40G>A
ENST00000630027.1:c.81+40G>A	ENSP00000485798.1:n.81+40G>A
NM_002818.2:c.81+40G>A	NP_002809.2:n.81+40G>A
XM_006720213.1:c.-275+40G>A	XP_006720276.1:n.-275+40G>A
XM_006720213.2:c.-275+40G>A	XP_006720276.1:n.-275+40G>A
NM_002818.3:c.81+40G>A MANE Select	NP_002809.2:n.81+40G>A