Canonical Allele Identifier: CA3945999

Gene: PDSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107212113T>C , CM000668.2:g.107212113T>C	GRCh38
NC_000006.11:g.107533317T>C , CM000668.1:g.107533317T>C	GRCh37
NC_000006.10:g.107640010T>C	NCBI36
NG_013033.1:g.252463A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020381.4:c.872A>G MANE Select	NP_065114.3:p.His291Arg
ENST00000369037.9:c.872A>G MANE Select	ENSP00000358033.4:p.His291Arg
NM_020381.3:c.872A>G	NP_065114.3:p.His291Arg
ENST00000369037.8:c.872A>G	ENSP00000358033.4:p.His291Arg
ENST00000449027.1:c.47A>G	ENSP00000392613.1:p.His16Arg
XM_011535956.1:c.872A>G	XP_011534258.1:p.His291Arg
XM_011535956.3:c.872A>G	XP_011534258.1:p.His291Arg
XM_011535957.1:c.872A>G	XP_011534259.1:p.His291Arg
XM_011535957.3:c.872A>G	XP_011534259.1:p.His291Arg
XM_011535958.1:c.737A>G	XP_011534260.1:p.His246Arg
XM_011535958.3:c.737A>G	XP_011534260.1:p.His246Arg
XM_011535959.1:c.872A>G	XP_011534261.1:p.His291Arg
XM_011535959.3:c.872A>G	XP_011534261.1:p.His291Arg
XM_011535960.1:c.464A>G	XP_011534262.1:p.His155Arg
XM_011535960.3:c.464A>G	XP_011534262.1:p.His155Arg
XM_011535961.1:c.703-18259A>G	XP_011534263.1:n.703-18259A>G
XM_011535961.3:c.703-18259A>G	XP_011534263.1:n.703-18259A>G
XM_011535962.1:c.464A>G	XP_011534264.1:p.His155Arg
XM_011535962.2:c.464A>G	XP_011534264.1:p.His155Arg
XM_017011082.2:c.872A>G	XP_016866571.1:p.His291Arg