Canonical Allele Identifier: CA451564362

Gene: PDSS2

Linked Data

• MyVariant Identifiers: chr6:g.107566812A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245608A>G , CM000668.2:g.107245608A>G	GRCh38
NC_000006.11:g.107566812A>G , CM000668.1:g.107566812A>G	GRCh37
NC_000006.10:g.107673505A>G	NCBI36
NG_013033.1:g.218968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.642T>C MANE Select	ENSP00000358033.4:p.Leu214=
ENST00000369037.8:c.642T>C	ENSP00000358033.4:p.Leu214=
NM_020381.3:c.642T>C	NP_065114.3:p.Leu214=
XM_011535956.1:c.642T>C	XP_011534258.1:p.Leu214=
XM_011535957.1:c.642T>C	XP_011534259.1:p.Leu214=
XM_011535958.1:c.507T>C	XP_011534260.1:p.Leu169=
XM_011535959.1:c.642T>C	XP_011534261.1:p.Leu214=
XM_011535960.1:c.234T>C	XP_011534262.1:p.Leu78=
XM_011535961.1:c.642T>C	XP_011534263.1:p.Leu214=
XM_011535962.1:c.234T>C	XP_011534264.1:p.Leu78=
XM_011535956.3:c.642T>C	XP_011534258.1:p.Leu214=
XM_011535957.3:c.642T>C	XP_011534259.1:p.Leu214=
XM_011535958.3:c.507T>C	XP_011534260.1:p.Leu169=
XM_011535959.3:c.642T>C	XP_011534261.1:p.Leu214=
XM_011535960.3:c.234T>C	XP_011534262.1:p.Leu78=
XM_011535961.3:c.642T>C	XP_011534263.1:p.Leu214=
XM_011535962.2:c.234T>C	XP_011534264.1:p.Leu78=
XM_017011082.2:c.642T>C	XP_016866571.1:p.Leu214=
NM_020381.4:c.642T>C MANE Select	NP_065114.3:p.Leu214=