Canonical Allele Identifier: CA389281103

Gene: PSME2

Linked Data

• dbSNP Id: rs1207139927
• gnomAD v2: 14-24615443-C-T
• gnomAD v4: 14-24146234-C-T
• MyVariant Identifiers: chr14:g.24615443C>T (hg19) ; chr14:g.24146234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146234C>T , CM000676.2:g.24146234C>T	GRCh38
NC_000014.8:g.24615443C>T , CM000676.1:g.24615443C>T	GRCh37
NC_000014.7:g.23685283C>T	NCBI36
NG_042234.1:g.4360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.55G>A MANE Select	ENSP00000216802.5:p.Val19Ile
ENST00000216802.9:c.55G>A	ENSP00000216802.5:p.Val19Ile
ENST00000471700.6:n.53G>A
ENST00000558273.5:c.55G>A	ENSP00000453195.1:p.Val19Ile
ENST00000558931.5:n.732G>A
ENST00000559056.5:c.-177G>A	ENSP00000452940.1:n.-177G>A
ENST00000559453.5:n.5G>A
ENST00000559493.5:n.52G>A
ENST00000559613.1:n.103G>A
ENST00000560370.3:c.55G>A	ENSP00000453161.1:p.Val19Ile
ENST00000560410.5:c.48+300G>A	ENSP00000453487.1:n.48+300G>A
ENST00000560592.5:n.95G>A
ENST00000560788.1:n.70G>A
ENST00000615264.4:c.55G>A	ENSP00000484569.1:p.Val19Ile
ENST00000630027.1:c.55G>A	ENSP00000485798.1:p.Val19Ile
NM_002818.2:c.55G>A	NP_002809.2:p.Val19Ile
XM_006720213.1:c.-301G>A	XP_006720276.1:n.-301G>A
XM_006720213.2:c.-301G>A	XP_006720276.1:n.-301G>A
NM_002818.3:c.55G>A MANE Select	NP_002809.2:p.Val19Ile