Canonical Allele Identifier: CA365323116

Gene: PDSS2

Linked Data

• MyVariant Identifiers: chr6:g.107566796T>A (hg19) ; chr6:g.107245592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245592T>A , CM000668.2:g.107245592T>A	GRCh38
NC_000006.11:g.107566796T>A , CM000668.1:g.107566796T>A	GRCh37
NC_000006.10:g.107673489T>A	NCBI36
NG_013033.1:g.218984A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.658A>T MANE Select	ENSP00000358033.4:p.Met220Leu
ENST00000369037.8:c.658A>T	ENSP00000358033.4:p.Met220Leu
NM_020381.3:c.658A>T	NP_065114.3:p.Met220Leu
XM_011535956.1:c.658A>T	XP_011534258.1:p.Met220Leu
XM_011535957.1:c.658A>T	XP_011534259.1:p.Met220Leu
XM_011535958.1:c.523A>T	XP_011534260.1:p.Met175Leu
XM_011535959.1:c.658A>T	XP_011534261.1:p.Met220Leu
XM_011535960.1:c.250A>T	XP_011534262.1:p.Met84Leu
XM_011535961.1:c.658A>T	XP_011534263.1:p.Met220Leu
XM_011535962.1:c.250A>T	XP_011534264.1:p.Met84Leu
XM_011535956.3:c.658A>T	XP_011534258.1:p.Met220Leu
XM_011535957.3:c.658A>T	XP_011534259.1:p.Met220Leu
XM_011535958.3:c.523A>T	XP_011534260.1:p.Met175Leu
XM_011535959.3:c.658A>T	XP_011534261.1:p.Met220Leu
XM_011535960.3:c.250A>T	XP_011534262.1:p.Met84Leu
XM_011535961.3:c.658A>T	XP_011534263.1:p.Met220Leu
XM_011535962.2:c.250A>T	XP_011534264.1:p.Met84Leu
XM_017011082.2:c.658A>T	XP_016866571.1:p.Met220Leu
NM_020381.4:c.658A>T MANE Select	NP_065114.3:p.Met220Leu