Canonical Allele Identifier: CA670812

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21846242C>T , CM000663.2:g.21846242C>T	GRCh38
NC_000001.10:g.22172735C>T , CM000663.1:g.22172735C>T	GRCh37
NC_000001.9:g.22045322C>T	NCBI36
NG_016740.1:g.96016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.8330G>A MANE Select	ENSP00000363827.3:p.Arg2777Gln
ENST00000374695.7:c.8330G>A	ENSP00000363827.3:p.Arg2777Gln
ENST00000453796.1:n.575G>A
NM_001291860.1:c.8333G>A	NP_001278789.1:p.Arg2778Gln
NM_005529.6:c.8330G>A	NP_005520.4:p.Arg2777Gln
XM_006710594.2:c.8876G>A	XP_006710657.1:p.Arg2959Gln
XM_006710595.2:c.8828G>A	XP_006710658.1:p.Arg2943Gln
XM_006710596.2:c.8807G>A	XP_006710659.1:p.Arg2936Gln
XM_006710597.2:c.8330G>A	XP_006710660.1:p.Arg2777Gln
XM_011541317.1:c.8879G>A	XP_011539619.1:p.Arg2960Gln
XM_011541318.1:c.8879G>A	XP_011539620.1:p.Arg2960Gln
XM_011541319.1:c.8879G>A	XP_011539621.1:p.Arg2960Gln
XM_011541320.1:c.8600G>A	XP_011539622.1:p.Arg2867Gln
XM_011541321.1:c.8384G>A	XP_011539623.1:p.Arg2795Gln
XM_011541318.2:c.8879G>A	XP_011539620.1:p.Arg2960Gln
XM_017001120.1:c.8525G>A	XP_016856609.1:p.Arg2842Gln
XM_017001121.1:c.8474G>A	XP_016856610.1:p.Arg2825Gln
XM_017001122.1:c.8471G>A	XP_016856611.1:p.Arg2824Gln
NM_005529.7:c.8330G>A MANE Select	NP_005520.4:p.Arg2777Gln
NM_001291860.2:c.8333G>A	NP_001278789.1:p.Arg2778Gln