Canonical Allele Identifier: CA673219

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21880550C>T , CM000663.2:g.21880550C>T	GRCh38
NC_000001.10:g.22207043C>T , CM000663.1:g.22207043C>T	GRCh37
NC_000001.9:g.22079630C>T	NCBI36
NG_016740.1:g.61708G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.2008G>A MANE Select	NP_005520.4:p.Val670Ile
ENST00000374695.8:c.2008G>A MANE Select	ENSP00000363827.3:p.Val670Ile
NM_001291860.1:c.2011G>A	NP_001278789.1:p.Val671Ile
NM_001291860.2:c.2011G>A	NP_001278789.1:p.Val671Ile
NM_005529.6:c.2008G>A	NP_005520.4:p.Val670Ile
ENST00000374695.7:c.2008G>A	ENSP00000363827.3:p.Val670Ile
XM_006710594.2:c.2059G>A	XP_006710657.1:p.Val687Ile
XM_006710595.2:c.2011G>A	XP_006710658.1:p.Val671Ile
XM_006710596.2:c.2062G>A	XP_006710659.1:p.Val688Ile
XM_006710597.2:c.2008G>A	XP_006710660.1:p.Val670Ile
XM_011541317.1:c.2062G>A	XP_011539619.1:p.Val688Ile
XM_011541318.1:c.2062G>A	XP_011539620.1:p.Val688Ile
XM_011541318.2:c.2062G>A	XP_011539620.1:p.Val688Ile
XM_011541319.1:c.2062G>A	XP_011539621.1:p.Val688Ile
XM_011541320.1:c.2062G>A	XP_011539622.1:p.Val688Ile
XM_011541321.1:c.2062G>A	XP_011539623.1:p.Val688Ile
XM_011541322.1:c.2062G>A	XP_011539624.1:p.Val688Ile
XM_017001120.1:c.2203G>A	XP_016856609.1:p.Val735Ile
XM_017001121.1:c.2152G>A	XP_016856610.1:p.Val718Ile
XM_017001122.1:c.2149G>A	XP_016856611.1:p.Val717Ile