Canonical Allele Identifier: CA3946047

Gene: PDSS2

Linked Data

• ClinVar Variation Id: 1646701
• ClinVar RCV Id: RCV002151272 ; RCV002500313
• dbSNP Id: rs200017192
• ExAC: 6:107566736 C / T
• gnomAD v2: 6-107566736-C-T
• gnomAD v3: 6-107245532-C-T
• gnomAD v4: 6-107245532-C-T
• MyVariant Identifiers: chr6:g.107566736C>T (hg19) ; chr6:g.107245532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245532C>T , CM000668.2:g.107245532C>T	GRCh38
NC_000006.11:g.107566736C>T , CM000668.1:g.107566736C>T	GRCh37
NC_000006.10:g.107673429C>T	NCBI36
NG_013033.1:g.219044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.702+16G>A MANE Select	ENSP00000358033.4:n.702+16G>A
ENST00000369037.8:c.702+16G>A	ENSP00000358033.4:n.702+16G>A
NM_020381.3:c.702+16G>A	NP_065114.3:n.702+16G>A
XM_011535956.1:c.702+16G>A	XP_011534258.1:n.702+16G>A
XM_011535957.1:c.702+16G>A	XP_011534259.1:n.702+16G>A
XM_011535958.1:c.567+16G>A	XP_011534260.1:n.567+16G>A
XM_011535959.1:c.702+16G>A	XP_011534261.1:n.702+16G>A
XM_011535960.1:c.294+16G>A	XP_011534262.1:n.294+16G>A
XM_011535961.1:c.702+16G>A	XP_011534263.1:n.702+16G>A
XM_011535962.1:c.294+16G>A	XP_011534264.1:n.294+16G>A
XM_011535956.3:c.702+16G>A	XP_011534258.1:n.702+16G>A
XM_011535957.3:c.702+16G>A	XP_011534259.1:n.702+16G>A
XM_011535958.3:c.567+16G>A	XP_011534260.1:n.567+16G>A
XM_011535959.3:c.702+16G>A	XP_011534261.1:n.702+16G>A
XM_011535960.3:c.294+16G>A	XP_011534262.1:n.294+16G>A
XM_011535961.3:c.702+16G>A	XP_011534263.1:n.702+16G>A
XM_011535962.2:c.294+16G>A	XP_011534264.1:n.294+16G>A
XM_017011082.2:c.702+16G>A	XP_016866571.1:n.702+16G>A
NM_020381.4:c.702+16G>A MANE Select	NP_065114.3:n.702+16G>A