Canonical Allele Identifier: CA671115

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21848774C>T , CM000663.2:g.21848774C>T	GRCh38
NC_000001.10:g.22175267C>T , CM000663.1:g.22175267C>T	GRCh37
NC_000001.9:g.22047854C>T	NCBI36
NG_016740.1:g.93484G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.7606G>A MANE Select	NP_005520.4:p.Val2536Ile
ENST00000374695.8:c.7606G>A MANE Select	ENSP00000363827.3:p.Val2536Ile
NM_001291860.1:c.7609G>A	NP_001278789.1:p.Val2537Ile
NM_001291860.2:c.7609G>A	NP_001278789.1:p.Val2537Ile
NM_005529.6:c.7606G>A	NP_005520.4:p.Val2536Ile
ENST00000374695.7:c.7606G>A	ENSP00000363827.3:p.Val2536Ile
XM_006710594.2:c.8152G>A	XP_006710657.1:p.Val2718Ile
XM_006710595.2:c.8104G>A	XP_006710658.1:p.Val2702Ile
XM_006710596.2:c.8083G>A	XP_006710659.1:p.Val2695Ile
XM_006710597.2:c.7606G>A	XP_006710660.1:p.Val2536Ile
XM_011541317.1:c.8155G>A	XP_011539619.1:p.Val2719Ile
XM_011541318.1:c.8155G>A	XP_011539620.1:p.Val2719Ile
XM_011541318.2:c.8155G>A	XP_011539620.1:p.Val2719Ile
XM_011541319.1:c.8155G>A	XP_011539621.1:p.Val2719Ile
XM_011541320.1:c.7876G>A	XP_011539622.1:p.Val2626Ile
XM_011541321.1:c.7660G>A	XP_011539623.1:p.Val2554Ile
XM_017001120.1:c.7801G>A	XP_016856609.1:p.Val2601Ile
XM_017001121.1:c.7750G>A	XP_016856610.1:p.Val2584Ile
XM_017001122.1:c.7747G>A	XP_016856611.1:p.Val2583Ile