Canonical Allele Identifier: CA669893

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21832515C>T , CM000663.2:g.21832515C>T	GRCh38
NC_000001.10:g.22159008C>T , CM000663.1:g.22159008C>T	GRCh37
NC_000001.9:g.22031595C>T	NCBI36
NG_016740.1:g.109743G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.11187G>A MANE Select	NP_005520.4:p.Val3729=
ENST00000374695.8:c.11187G>A MANE Select	ENSP00000363827.3:p.Val3729=
NM_001291860.1:c.11190G>A	NP_001278789.1:p.Val3730=
NM_001291860.2:c.11190G>A	NP_001278789.1:p.Val3730=
NM_005529.6:c.11187G>A	NP_005520.4:p.Val3729=
ENST00000374695.7:c.11187G>A	ENSP00000363827.3:p.Val3729=
ENST00000635682.1:c.338G>A
XM_006710594.2:c.11751G>A	XP_006710657.1:p.Val3917=
XM_006710595.2:c.11703G>A	XP_006710658.1:p.Val3901=
XM_006710596.2:c.11682G>A	XP_006710659.1:p.Val3894=
XM_006710597.2:c.11205G>A	XP_006710660.1:p.Val3735=
XM_011541317.1:c.11754G>A	XP_011539619.1:p.Val3918=
XM_011541318.1:c.11736G>A	XP_011539620.1:p.Val3912=
XM_011541318.2:c.11736G>A	XP_011539620.1:p.Val3912=
XM_011541319.1:c.11754G>A	XP_011539621.1:p.Val3918=
XM_011541320.1:c.11475G>A	XP_011539622.1:p.Val3825=
XM_011541321.1:c.11259G>A	XP_011539623.1:p.Val3753=
XM_017001120.1:c.11382G>A	XP_016856609.1:p.Val3794=
XM_017001121.1:c.11331G>A	XP_016856610.1:p.Val3777=
XM_017001122.1:c.11328G>A	XP_016856611.1:p.Val3776=