Canonical Allele Identifier: CA365322545

Gene: PDSS2

Linked Data

• COSMIC: COSM1697735
• MyVariant Identifiers: chr6:g.107531701G>A (hg19) ; chr6:g.107210497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210497G>A , CM000668.2:g.107210497G>A	GRCh38
NC_000006.11:g.107531701G>A , CM000668.1:g.107531701G>A	GRCh37
NC_000006.10:g.107638394G>A	NCBI36
NG_013033.1:g.254079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.950C>T MANE Select	ENSP00000358033.4:p.Pro317Leu
ENST00000369037.8:c.950C>T	ENSP00000358033.4:p.Pro317Leu
ENST00000449027.1:c.125C>T	ENSP00000392613.1:p.Pro42Leu
NM_020381.3:c.950C>T	NP_065114.3:p.Pro317Leu
XM_011535956.1:c.950C>T	XP_011534258.1:p.Pro317Leu
XM_011535957.1:c.876+1612C>T	XP_011534259.1:n.876+1612C>T
XM_011535958.1:c.815C>T	XP_011534260.1:p.Pro272Leu
XM_011535959.1:c.876+1612C>T	XP_011534261.1:n.876+1612C>T
XM_011535960.1:c.542C>T	XP_011534262.1:p.Pro181Leu
XM_011535961.1:c.703-16643C>T	XP_011534263.1:n.703-16643C>T
XM_011535962.1:c.542C>T	XP_011534264.1:p.Pro181Leu
XM_011535956.3:c.950C>T	XP_011534258.1:p.Pro317Leu
XM_011535957.3:c.876+1612C>T	XP_011534259.1:n.876+1612C>T
XM_011535958.3:c.815C>T	XP_011534260.1:p.Pro272Leu
XM_011535959.3:c.876+1612C>T	XP_011534261.1:n.876+1612C>T
XM_011535960.3:c.542C>T	XP_011534262.1:p.Pro181Leu
XM_011535961.3:c.703-16643C>T	XP_011534263.1:n.703-16643C>T
XM_011535962.2:c.542C>T	XP_011534264.1:p.Pro181Leu
XM_017011082.2:c.950C>T	XP_016866571.1:p.Pro317Leu
NM_020381.4:c.950C>T MANE Select	NP_065114.3:p.Pro317Leu