Canonical Allele Identifier: CA485661969

Gene: PSME2

Linked Data

• dbSNP Id: rs1566610345
• gnomAD v2: 14-24615456-A-G
• gnomAD v3: 14-24146247-A-G
• gnomAD v4: 14-24146247-A-G
• MyVariant Identifiers: chr14:g.24615456A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146247A>G , CM000676.2:g.24146247A>G	GRCh38
NC_000014.8:g.24615456A>G , CM000676.1:g.24615456A>G	GRCh37
NC_000014.7:g.23685296A>G	NCBI36
NG_042234.1:g.4373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216802.10:c.49-7T>C MANE Select	ENSP00000216802.5:n.49-7T>C
ENST00000216802.9:c.49-7T>C	ENSP00000216802.5:n.49-7T>C
ENST00000471700.6:n.47-7T>C
ENST00000558273.5:c.49-7T>C	ENSP00000453195.1:n.49-7T>C
ENST00000558931.5:n.726-7T>C
ENST00000559056.5:c.-190T>C	ENSP00000452940.1:n.-190T>C
ENST00000559493.5:n.46-7T>C
ENST00000559613.1:n.97-7T>C
ENST00000560370.3:c.49-7T>C	ENSP00000453161.1:n.49-7T>C
ENST00000560410.5:c.48+287T>C	ENSP00000453487.1:n.48+287T>C
ENST00000560592.5:n.89-7T>C
ENST00000560788.1:n.64-7T>C
ENST00000615264.4:c.49-7T>C	ENSP00000484569.1:n.49-7T>C
ENST00000630027.1:c.49-7T>C	ENSP00000485798.1:n.49-7T>C
NM_002818.2:c.49-7T>C	NP_002809.2:n.49-7T>C
XM_006720213.1:c.-307-7T>C	XP_006720276.1:n.-307-7T>C
XM_006720213.2:c.-307-7T>C	XP_006720276.1:n.-307-7T>C
NM_002818.3:c.49-7T>C MANE Select	NP_002809.2:n.49-7T>C