Canonical Allele Identifier: CA365322700

Gene: PDSS2

Linked Data

• MyVariant Identifiers: chr6:g.107531770T>C (hg19) ; chr6:g.107210566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210566T>C , CM000668.2:g.107210566T>C	GRCh38
NC_000006.11:g.107531770T>C , CM000668.1:g.107531770T>C	GRCh37
NC_000006.10:g.107638463T>C	NCBI36
NG_013033.1:g.254010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.881A>G MANE Select	ENSP00000358033.4:p.Asn294Ser
ENST00000369037.8:c.881A>G	ENSP00000358033.4:p.Asn294Ser
ENST00000449027.1:c.56A>G	ENSP00000392613.1:p.Asn19Ser
NM_020381.3:c.881A>G	NP_065114.3:p.Asn294Ser
XM_011535956.1:c.881A>G	XP_011534258.1:p.Asn294Ser
XM_011535957.1:c.876+1543A>G	XP_011534259.1:n.876+1543A>G
XM_011535958.1:c.746A>G	XP_011534260.1:p.Asn249Ser
XM_011535959.1:c.876+1543A>G	XP_011534261.1:n.876+1543A>G
XM_011535960.1:c.473A>G	XP_011534262.1:p.Asn158Ser
XM_011535961.1:c.703-16712A>G	XP_011534263.1:n.703-16712A>G
XM_011535962.1:c.473A>G	XP_011534264.1:p.Asn158Ser
XM_011535956.3:c.881A>G	XP_011534258.1:p.Asn294Ser
XM_011535957.3:c.876+1543A>G	XP_011534259.1:n.876+1543A>G
XM_011535958.3:c.746A>G	XP_011534260.1:p.Asn249Ser
XM_011535959.3:c.876+1543A>G	XP_011534261.1:n.876+1543A>G
XM_011535960.3:c.473A>G	XP_011534262.1:p.Asn158Ser
XM_011535961.3:c.703-16712A>G	XP_011534263.1:n.703-16712A>G
XM_011535962.2:c.473A>G	XP_011534264.1:p.Asn158Ser
XM_017011082.2:c.881A>G	XP_016866571.1:p.Asn294Ser
NM_020381.4:c.881A>G MANE Select	NP_065114.3:p.Asn294Ser