Canonical Allele Identifier: CA389281161

Gene: PSME2

Linked Data

• MyVariant Identifiers: chr14:g.24615450C>G (hg19) ; chr14:g.24146241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146241C>G , CM000676.2:g.24146241C>G	GRCh38
NC_000014.8:g.24615450C>G , CM000676.1:g.24615450C>G	GRCh37
NC_000014.7:g.23685290C>G	NCBI36
NG_042234.1:g.4367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.49-1G>C MANE Select	ENSP00000216802.5:n.49-1G>C
ENST00000216802.9:c.49-1G>C	ENSP00000216802.5:n.49-1G>C
ENST00000471700.6:n.47-1G>C
ENST00000558273.5:c.49-1G>C	ENSP00000453195.1:n.49-1G>C
ENST00000558931.5:n.726-1G>C
ENST00000559056.5:c.-184G>C	ENSP00000452940.1:n.-184G>C
ENST00000559493.5:n.46-1G>C
ENST00000559613.1:n.97-1G>C
ENST00000560370.3:c.49-1G>C	ENSP00000453161.1:n.49-1G>C
ENST00000560410.5:c.48+293G>C	ENSP00000453487.1:n.48+293G>C
ENST00000560592.5:n.89-1G>C
ENST00000560788.1:n.64-1G>C
ENST00000615264.4:c.49-1G>C	ENSP00000484569.1:n.49-1G>C
ENST00000630027.1:c.49-1G>C	ENSP00000485798.1:n.49-1G>C
NM_002818.2:c.49-1G>C	NP_002809.2:n.49-1G>C
XM_006720213.1:c.-307-1G>C	XP_006720276.1:n.-307-1G>C
XM_006720213.2:c.-307-1G>C	XP_006720276.1:n.-307-1G>C
NM_002818.3:c.49-1G>C MANE Select	NP_002809.2:n.49-1G>C