Canonical Allele Identifier: CA257871798

Gene: PSME2

Linked Data

• dbSNP Id: rs994230346
• gnomAD v4: 14-24146128-G-C
• MyVariant Identifiers: chr14:g.24615337G>C (hg19) ; chr14:g.24146128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146128G>C , CM000676.2:g.24146128G>C	GRCh38
NC_000014.8:g.24615337G>C , CM000676.1:g.24615337G>C	GRCh37
NC_000014.7:g.23685177G>C	NCBI36
NG_042234.1:g.4254G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.81+80C>G MANE Select	ENSP00000216802.5:n.81+80C>G
ENST00000216802.9:c.81+80C>G	ENSP00000216802.5:n.81+80C>G
ENST00000471700.6:n.79+80C>G
ENST00000558273.5:c.81+80C>G	ENSP00000453195.1:n.81+80C>G
ENST00000558931.5:n.838C>G
ENST00000559056.5:c.-151+80C>G	ENSP00000452940.1:n.-151+80C>G
ENST00000559453.5:n.111C>G
ENST00000559493.5:n.78+80C>G
ENST00000559613.1:n.129+80C>G
ENST00000560370.3:c.81+80C>G	ENSP00000453161.1:n.81+80C>G
ENST00000560410.5:c.49-356C>G	ENSP00000453487.1:n.49-356C>G
ENST00000560592.5:n.121+80C>G
ENST00000560788.1:n.176C>G
ENST00000615264.4:c.81+80C>G	ENSP00000484569.1:n.81+80C>G
ENST00000630027.1:c.81+80C>G	ENSP00000485798.1:n.81+80C>G
NM_002818.2:c.81+80C>G	NP_002809.2:n.81+80C>G
XM_006720213.1:c.-275+80C>G	XP_006720276.1:n.-275+80C>G
XM_006720213.2:c.-275+80C>G	XP_006720276.1:n.-275+80C>G
NM_002818.3:c.81+80C>G MANE Select	NP_002809.2:n.81+80C>G