Canonical Allele Identifier: CA389281088

Gene: PSME2

Linked Data

• gnomAD v4: 14-24146234-C-A
• MyVariant Identifiers: chr14:g.24615443C>A (hg19) ; chr14:g.24146234C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.55G>T MANE Select	ENSP00000216802.5:p.Val19Phe
ENST00000216802.9:c.55G>T	ENSP00000216802.5:p.Val19Phe
ENST00000471700.6:n.53G>T
ENST00000558273.5:c.55G>T	ENSP00000453195.1:p.Val19Phe
ENST00000558931.5:n.732G>T
ENST00000559056.5:c.-177G>T	ENSP00000452940.1:n.-177G>T
ENST00000559453.5:n.5G>T
ENST00000559493.5:n.52G>T
ENST00000559613.1:n.103G>T
ENST00000560370.3:c.55G>T	ENSP00000453161.1:p.Val19Phe
ENST00000560410.5:c.48+300G>T	ENSP00000453487.1:n.48+300G>T
ENST00000560592.5:n.95G>T
ENST00000560788.1:n.70G>T
ENST00000615264.4:c.55G>T	ENSP00000484569.1:p.Val19Phe
ENST00000630027.1:c.55G>T	ENSP00000485798.1:p.Val19Phe
NM_002818.2:c.55G>T	NP_002809.2:p.Val19Phe
XM_006720213.1:c.-301G>T	XP_006720276.1:n.-301G>T
XM_006720213.2:c.-301G>T	XP_006720276.1:n.-301G>T
NM_002818.3:c.55G>T MANE Select	NP_002809.2:p.Val19Phe