Canonical Allele Identifier: CA816859135

Gene: PDSS2

Linked Data

• dbSNP Id: rs1323808515
• MyVariant Identifiers: chr6:g.107531727del (hg19) ; chr6:g.107210523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210524del , CM000668.2:g.107210524del	GRCh38
NC_000006.11:g.107531728del , CM000668.1:g.107531728del	GRCh37
NC_000006.10:g.107638421del	NCBI36
NG_013033.1:g.254053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.924del MANE Select	ENSP00000358033.4:p.Met309Ter
ENST00000369037.8:c.924del	ENSP00000358033.4:p.Met309Ter
ENST00000449027.1:c.99del	ENSP00000392613.1:p.Met34Ter
NM_020381.3:c.924del	NP_065114.3:p.Met309Ter
XM_011535956.1:c.924del	XP_011534258.1:p.Met309Ter
XM_011535957.1:c.876+1586del	XP_011534259.1:n.876+1586del
XM_011535958.1:c.789del	XP_011534260.1:p.Met264Ter
XM_011535959.1:c.876+1586del	XP_011534261.1:n.876+1586del
XM_011535960.1:c.516del	XP_011534262.1:p.Met173Ter
XM_011535961.1:c.703-16669del	XP_011534263.1:n.703-16669del
XM_011535962.1:c.516del	XP_011534264.1:p.Met173Ter
XM_011535956.3:c.924del	XP_011534258.1:p.Met309Ter
XM_011535957.3:c.876+1586del	XP_011534259.1:n.876+1586del
XM_011535958.3:c.789del	XP_011534260.1:p.Met264Ter
XM_011535959.3:c.876+1586del	XP_011534261.1:n.876+1586del
XM_011535960.3:c.516del	XP_011534262.1:p.Met173Ter
XM_011535961.3:c.703-16669del	XP_011534263.1:n.703-16669del
XM_011535962.2:c.516del	XP_011534264.1:p.Met173Ter
XM_017011082.2:c.924del	XP_016866571.1:p.Met309Ter
NM_020381.4:c.924del MANE Select	NP_065114.3:p.Met309Ter