Canonical Allele Identifier: CA365322681

Gene: PDSS2

Linked Data

• ClinVar Variation Id: 2093965
• ClinVar RCV Id: RCV003021095
• MyVariant Identifiers: chr6:g.107531762C>T (hg19) ; chr6:g.107210558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210558C>T , CM000668.2:g.107210558C>T	GRCh38
NC_000006.11:g.107531762C>T , CM000668.1:g.107531762C>T	GRCh37
NC_000006.10:g.107638455C>T	NCBI36
NG_013033.1:g.254018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.889G>A MANE Select	ENSP00000358033.4:p.Val297Ile
ENST00000369037.8:c.889G>A	ENSP00000358033.4:p.Val297Ile
ENST00000449027.1:c.64G>A	ENSP00000392613.1:p.Val22Ile
NM_020381.3:c.889G>A	NP_065114.3:p.Val297Ile
XM_011535956.1:c.889G>A	XP_011534258.1:p.Val297Ile
XM_011535957.1:c.876+1551G>A	XP_011534259.1:n.876+1551G>A
XM_011535958.1:c.754G>A	XP_011534260.1:p.Val252Ile
XM_011535959.1:c.876+1551G>A	XP_011534261.1:n.876+1551G>A
XM_011535960.1:c.481G>A	XP_011534262.1:p.Val161Ile
XM_011535961.1:c.703-16704G>A	XP_011534263.1:n.703-16704G>A
XM_011535962.1:c.481G>A	XP_011534264.1:p.Val161Ile
XM_011535956.3:c.889G>A	XP_011534258.1:p.Val297Ile
XM_011535957.3:c.876+1551G>A	XP_011534259.1:n.876+1551G>A
XM_011535958.3:c.754G>A	XP_011534260.1:p.Val252Ile
XM_011535959.3:c.876+1551G>A	XP_011534261.1:n.876+1551G>A
XM_011535960.3:c.481G>A	XP_011534262.1:p.Val161Ile
XM_011535961.3:c.703-16704G>A	XP_011534263.1:n.703-16704G>A
XM_011535962.2:c.481G>A	XP_011534264.1:p.Val161Ile
XM_017011082.2:c.889G>A	XP_016866571.1:p.Val297Ile
NM_020381.4:c.889G>A MANE Select	NP_065114.3:p.Val297Ile