Canonical Allele Identifier: CA670252

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21838950C>T , CM000663.2:g.21838950C>T	GRCh38
NC_000001.10:g.22165443C>T , CM000663.1:g.22165443C>T	GRCh37
NC_000001.9:g.22038030C>T	NCBI36
NG_016740.1:g.103308G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.10025G>A MANE Select	NP_005520.4:p.Arg3342Lys
ENST00000374695.8:c.10025G>A MANE Select	ENSP00000363827.3:p.Arg3342Lys
NM_001291860.1:c.10028G>A	NP_001278789.1:p.Arg3343Lys
NM_001291860.2:c.10028G>A	NP_001278789.1:p.Arg3343Lys
NM_005529.6:c.10025G>A	NP_005520.4:p.Arg3342Lys
ENST00000374676.4:c.57G>A
ENST00000374695.7:c.10025G>A	ENSP00000363827.3:p.Arg3342Lys
XM_006710594.2:c.10571G>A	XP_006710657.1:p.Arg3524Lys
XM_006710595.2:c.10523G>A	XP_006710658.1:p.Arg3508Lys
XM_006710596.2:c.10502G>A	XP_006710659.1:p.Arg3501Lys
XM_006710597.2:c.10025G>A	XP_006710660.1:p.Arg3342Lys
XM_011541317.1:c.10574G>A	XP_011539619.1:p.Arg3525Lys
XM_011541318.1:c.10574G>A	XP_011539620.1:p.Arg3525Lys
XM_011541318.2:c.10574G>A	XP_011539620.1:p.Arg3525Lys
XM_011541319.1:c.10574G>A	XP_011539621.1:p.Arg3525Lys
XM_011541320.1:c.10295G>A	XP_011539622.1:p.Arg3432Lys
XM_011541321.1:c.10079G>A	XP_011539623.1:p.Arg3360Lys
XM_017001120.1:c.10220G>A	XP_016856609.1:p.Arg3407Lys
XM_017001121.1:c.10169G>A	XP_016856610.1:p.Arg3390Lys
XM_017001122.1:c.10166G>A	XP_016856611.1:p.Arg3389Lys