Canonical Allele Identifier: CA1653786350
Community Standard Title: NM_020381.4(PDSS2):c.964C= (p.Gln322=)
Gene: PDSS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107210483G= , CM000668.2:g.107210483G= GRCh38
NC_000006.11:g.107531687G= , CM000668.1:g.107531687G= GRCh37
NC_000006.10:g.107638380G= NCBI36
NG_013033.1:g.254093C=

Transcript Alleles

HGVS Amino-acid Change
NM_020381.4:c.964C= MANE Select NP_065114.3:p.Gln322=
ENST00000369037.9:c.964C= MANE Select ENSP00000358033.4:p.Gln322=
NM_020381.3:c.964C= NP_065114.3:p.Gln322=
ENST00000369037.8:c.964C= ENSP00000358033.4:p.Gln322=
ENST00000449027.1:c.139C= ENSP00000392613.1:p.Gln47=
XM_011535956.1:c.964C= XP_011534258.1:p.Gln322=
XM_011535956.3:c.964C= XP_011534258.1:p.Gln322=
XM_011535957.1:c.876+1626C= XP_011534259.1:n.876+1626C=
XM_011535957.3:c.876+1626C= XP_011534259.1:n.876+1626C=
XM_011535958.1:c.829C= XP_011534260.1:p.Gln277=
XM_011535958.3:c.829C= XP_011534260.1:p.Gln277=
XM_011535959.1:c.876+1626C= XP_011534261.1:n.876+1626C=
XM_011535959.3:c.876+1626C= XP_011534261.1:n.876+1626C=
XM_011535960.1:c.556C= XP_011534262.1:p.Gln186=
XM_011535960.3:c.556C= XP_011534262.1:p.Gln186=
XM_011535961.1:c.703-16629C= XP_011534263.1:n.703-16629C=
XM_011535961.3:c.703-16629C= XP_011534263.1:n.703-16629C=
XM_011535962.1:c.556C= XP_011534264.1:p.Gln186=
XM_011535962.2:c.556C= XP_011534264.1:p.Gln186=
XM_017011082.2:c.964C= XP_016866571.1:p.Gln322=