Canonical Allele Identifier: CA670902

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21847354C>T , CM000663.2:g.21847354C>T	GRCh38
NC_000001.10:g.22173847C>T , CM000663.1:g.22173847C>T	GRCh37
NC_000001.9:g.22046434C>T	NCBI36
NG_016740.1:g.94904G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.8164G>A MANE Select	NP_005520.4:p.Ala2722Thr
ENST00000374695.8:c.8164G>A MANE Select	ENSP00000363827.3:p.Ala2722Thr
NM_001291860.1:c.8167G>A	NP_001278789.1:p.Ala2723Thr
NM_001291860.2:c.8167G>A	NP_001278789.1:p.Ala2723Thr
NM_005529.6:c.8164G>A	NP_005520.4:p.Ala2722Thr
ENST00000374695.7:c.8164G>A	ENSP00000363827.3:p.Ala2722Thr
ENST00000453796.1:n.409G>A
XM_006710594.2:c.8710G>A	XP_006710657.1:p.Ala2904Thr
XM_006710595.2:c.8662G>A	XP_006710658.1:p.Ala2888Thr
XM_006710596.2:c.8641G>A	XP_006710659.1:p.Ala2881Thr
XM_006710597.2:c.8164G>A	XP_006710660.1:p.Ala2722Thr
XM_011541317.1:c.8713G>A	XP_011539619.1:p.Ala2905Thr
XM_011541318.1:c.8713G>A	XP_011539620.1:p.Ala2905Thr
XM_011541318.2:c.8713G>A	XP_011539620.1:p.Ala2905Thr
XM_011541319.1:c.8713G>A	XP_011539621.1:p.Ala2905Thr
XM_011541320.1:c.8434G>A	XP_011539622.1:p.Ala2812Thr
XM_011541321.1:c.8218G>A	XP_011539623.1:p.Ala2740Thr
XM_017001120.1:c.8359G>A	XP_016856609.1:p.Ala2787Thr
XM_017001121.1:c.8308G>A	XP_016856610.1:p.Ala2770Thr
XM_017001122.1:c.8305G>A	XP_016856611.1:p.Ala2769Thr