Canonical Allele Identifier: CA389281165

Gene: PSME2

Linked Data

• MyVariant Identifiers: chr14:g.24615451T>A (hg19) ; chr14:g.24146242T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146242T>A , CM000676.2:g.24146242T>A	GRCh38
NC_000014.8:g.24615451T>A , CM000676.1:g.24615451T>A	GRCh37
NC_000014.7:g.23685291T>A	NCBI36
NG_042234.1:g.4368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.49-2A>T MANE Select	ENSP00000216802.5:n.49-2A>T
ENST00000216802.9:c.49-2A>T	ENSP00000216802.5:n.49-2A>T
ENST00000471700.6:n.47-2A>T
ENST00000558273.5:c.49-2A>T	ENSP00000453195.1:n.49-2A>T
ENST00000558931.5:n.726-2A>T
ENST00000559056.5:c.-185A>T	ENSP00000452940.1:n.-185A>T
ENST00000559493.5:n.46-2A>T
ENST00000559613.1:n.97-2A>T
ENST00000560370.3:c.49-2A>T	ENSP00000453161.1:n.49-2A>T
ENST00000560410.5:c.48+292A>T	ENSP00000453487.1:n.48+292A>T
ENST00000560592.5:n.89-2A>T
ENST00000560788.1:n.64-2A>T
ENST00000615264.4:c.49-2A>T	ENSP00000484569.1:n.49-2A>T
ENST00000630027.1:c.49-2A>T	ENSP00000485798.1:n.49-2A>T
NM_002818.2:c.49-2A>T	NP_002809.2:n.49-2A>T
XM_006720213.1:c.-307-2A>T	XP_006720276.1:n.-307-2A>T
XM_006720213.2:c.-307-2A>T	XP_006720276.1:n.-307-2A>T
NM_002818.3:c.49-2A>T MANE Select	NP_002809.2:n.49-2A>T