Canonical Allele Identifier: CA485661962

Gene: PSME2

Linked Data

• MyVariant Identifiers: chr14:g.24615441G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24146232G>A , CM000676.2:g.24146232G>A	GRCh38
NC_000014.8:g.24615441G>A , CM000676.1:g.24615441G>A	GRCh37
NC_000014.7:g.23685281G>A	NCBI36
NG_042234.1:g.4358G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216802.10:c.57C>T MANE Select	ENSP00000216802.5:p.Val19=
ENST00000216802.9:c.57C>T	ENSP00000216802.5:p.Val19=
ENST00000471700.6:n.55C>T
ENST00000558273.5:c.57C>T	ENSP00000453195.1:p.Val19=
ENST00000558931.5:n.734C>T
ENST00000559056.5:c.-175C>T	ENSP00000452940.1:n.-175C>T
ENST00000559453.5:n.7C>T
ENST00000559493.5:n.54C>T
ENST00000559613.1:n.105C>T
ENST00000560370.3:c.57C>T	ENSP00000453161.1:p.Val19=
ENST00000560410.5:c.48+302C>T	ENSP00000453487.1:n.48+302C>T
ENST00000560592.5:n.97C>T
ENST00000560788.1:n.72C>T
ENST00000615264.4:c.57C>T	ENSP00000484569.1:p.Val19=
ENST00000630027.1:c.57C>T	ENSP00000485798.1:p.Val19=
NM_002818.2:c.57C>T	NP_002809.2:p.Val19=
XM_006720213.1:c.-299C>T	XP_006720276.1:n.-299C>T
XM_006720213.2:c.-299C>T	XP_006720276.1:n.-299C>T
NM_002818.3:c.57C>T MANE Select	NP_002809.2:p.Val19=