Canonical Allele Identifier: CA673689

Gene: HSPG2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21887553C>T , CM000663.2:g.21887553C>T	GRCh38
NC_000001.10:g.22214046C>T , CM000663.1:g.22214046C>T	GRCh37
NC_000001.9:g.22086633C>T	NCBI36
NG_016740.1:g.54705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374673.4:c.632G>A
ENST00000374695.8:c.825G>A MANE Select	ENSP00000363827.3:p.Leu275=
ENST00000374673.3:n.305G>A
ENST00000374695.7:c.825G>A	ENSP00000363827.3:p.Leu275=
ENST00000412328.5:n.593G>A
NM_001291860.1:c.825G>A	NP_001278789.1:p.Leu275=
NM_005529.6:c.825G>A	NP_005520.4:p.Leu275=
XM_006710594.2:c.876G>A	XP_006710657.1:p.Leu292=
XM_006710595.2:c.825G>A	XP_006710658.1:p.Leu275=
XM_006710596.2:c.876G>A	XP_006710659.1:p.Leu292=
XM_006710597.2:c.825G>A	XP_006710660.1:p.Leu275=
XM_011541317.1:c.876G>A	XP_011539619.1:p.Leu292=
XM_011541318.1:c.876G>A	XP_011539620.1:p.Leu292=
XM_011541319.1:c.876G>A	XP_011539621.1:p.Leu292=
XM_011541320.1:c.876G>A	XP_011539622.1:p.Leu292=
XM_011541321.1:c.876G>A	XP_011539623.1:p.Leu292=
XM_011541322.1:c.876G>A	XP_011539624.1:p.Leu292=
XM_011541318.2:c.876G>A	XP_011539620.1:p.Leu292=
XM_017001120.1:c.1017G>A	XP_016856609.1:p.Leu339=
XM_017001121.1:c.966G>A	XP_016856610.1:p.Leu322=
XM_017001122.1:c.966G>A	XP_016856611.1:p.Leu322=
NM_005529.7:c.825G>A MANE Select	NP_005520.4:p.Leu275=
NM_001291860.2:c.825G>A	NP_001278789.1:p.Leu275=