Canonical Allele Identifier: CA2624317273

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146176-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146176C>G , CM000676.2:g.24146176C>G	GRCh38
NC_000014.8:g.24615385C>G , CM000676.1:g.24615385C>G	GRCh37
NC_000014.7:g.23685225C>G	NCBI36
NG_042234.1:g.4302C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.81+32G>C MANE Select	ENSP00000216802.5:n.81+32G>C
ENST00000216802.9:c.81+32G>C	ENSP00000216802.5:n.81+32G>C
ENST00000471700.6:n.79+32G>C
ENST00000558273.5:c.81+32G>C	ENSP00000453195.1:n.81+32G>C
ENST00000558931.5:n.790G>C
ENST00000559056.5:c.-151+32G>C	ENSP00000452940.1:n.-151+32G>C
ENST00000559453.5:n.63G>C
ENST00000559493.5:n.78+32G>C
ENST00000559613.1:n.129+32G>C
ENST00000560370.3:c.81+32G>C	ENSP00000453161.1:n.81+32G>C
ENST00000560410.5:c.48+358G>C	ENSP00000453487.1:n.48+358G>C
ENST00000560592.5:n.121+32G>C
ENST00000560788.1:n.128G>C
ENST00000615264.4:c.81+32G>C	ENSP00000484569.1:n.81+32G>C
ENST00000630027.1:c.81+32G>C	ENSP00000485798.1:n.81+32G>C
NM_002818.2:c.81+32G>C	NP_002809.2:n.81+32G>C
XM_006720213.1:c.-275+32G>C	XP_006720276.1:n.-275+32G>C
XM_006720213.2:c.-275+32G>C	XP_006720276.1:n.-275+32G>C
NM_002818.3:c.81+32G>C MANE Select	NP_002809.2:n.81+32G>C