Canonical Allele Identifier: CA320177

Gene: PDSS2

Linked Data

• ClinVar Variation Id: 214989
• ClinVar RCV Id: RCV000195802 ; RCV000727264 ; RCV001335051 ; RCV002515425 ; RCV003977544
• dbSNP Id: rs201388841
• ExAC: 6:107475977 C / T
• gnomAD v2: 6-107475977-C-T
• gnomAD v3: 6-107154773-C-T
• gnomAD v4: 6-107154773-C-T
• MyVariant Identifiers: chr6:g.107475977C>T (hg19) ; chr6:g.107154773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107154773C>T , CM000668.2:g.107154773C>T	GRCh38
NC_000006.11:g.107475977C>T , CM000668.1:g.107475977C>T	GRCh37
NC_000006.10:g.107582670C>T	NCBI36
NG_013033.1:g.309803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.1046G>A MANE Select	ENSP00000358033.4:p.Arg349Gln
ENST00000369037.8:c.1046G>A	ENSP00000358033.4:p.Arg349Gln
NM_020381.3:c.1046G>A	NP_065114.3:p.Arg349Gln
XM_011535956.1:c.1244G>A	XP_011534258.1:p.Arg415Gln
XM_011535957.1:c.1112G>A	XP_011534259.1:p.Arg371Gln
XM_011535958.1:c.1109G>A	XP_011534260.1:p.Arg370Gln
XM_011535959.1:c.914G>A	XP_011534261.1:p.Arg305Gln
XM_011535960.1:c.836G>A	XP_011534262.1:p.Arg279Gln
XM_011535961.1:c.740G>A	XP_011534263.1:p.Arg247Gln
XM_011535962.1:c.638G>A	XP_011534264.1:p.Arg213Gln
XM_011535956.3:c.1244G>A	XP_011534258.1:p.Arg415Gln
XM_011535957.3:c.1112G>A	XP_011534259.1:p.Arg371Gln
XM_011535958.3:c.1109G>A	XP_011534260.1:p.Arg370Gln
XM_011535959.3:c.914G>A	XP_011534261.1:p.Arg305Gln
XM_011535960.3:c.836G>A	XP_011534262.1:p.Arg279Gln
XM_011535961.3:c.740G>A	XP_011534263.1:p.Arg247Gln
XM_011535962.2:c.638G>A	XP_011534264.1:p.Arg213Gln
NM_020381.4:c.1046G>A MANE Select	NP_065114.3:p.Arg349Gln