Canonical Allele Identifier: CA2578705078

Gene: PDSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210558dup , CM000668.2:g.107210558dup	GRCh38
NC_000006.11:g.107531762dup , CM000668.1:g.107531762dup	GRCh37
NC_000006.10:g.107638455dup	NCBI36
NG_013033.1:g.254018dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.889dup MANE Select	ENSP00000358033.4:p.Val297GlyfsTer6
ENST00000369037.8:c.889dup	ENSP00000358033.4:p.Val297GlyfsTer6
ENST00000449027.1:c.64dup	ENSP00000392613.1:p.Val22GlyfsTer6
NM_020381.3:c.889dup	NP_065114.3:p.Val297GlyfsTer6
XM_011535956.1:c.889dup	XP_011534258.1:p.Val297GlyfsTer6
XM_011535957.1:c.876+1551dup	XP_011534259.1:n.876+1551dup
XM_011535958.1:c.754dup	XP_011534260.1:p.Val252GlyfsTer6
XM_011535959.1:c.876+1551dup	XP_011534261.1:n.876+1551dup
XM_011535960.1:c.481dup	XP_011534262.1:p.Val161GlyfsTer6
XM_011535961.1:c.703-16704dup	XP_011534263.1:n.703-16704dup
XM_011535962.1:c.481dup	XP_011534264.1:p.Val161GlyfsTer6
XM_011535956.3:c.889dup	XP_011534258.1:p.Val297GlyfsTer6
XM_011535957.3:c.876+1551dup	XP_011534259.1:n.876+1551dup
XM_011535958.3:c.754dup	XP_011534260.1:p.Val252GlyfsTer6
XM_011535959.3:c.876+1551dup	XP_011534261.1:n.876+1551dup
XM_011535960.3:c.481dup	XP_011534262.1:p.Val161GlyfsTer6
XM_011535961.3:c.703-16704dup	XP_011534263.1:n.703-16704dup
XM_011535962.2:c.481dup	XP_011534264.1:p.Val161GlyfsTer6
XM_017011082.2:c.889dup	XP_016866571.1:p.Val297GlyfsTer6
NM_020381.4:c.889dup MANE Select	NP_065114.3:p.Val297GlyfsTer6