Canonical Allele Identifier: CA669498

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21828851C>T , CM000663.2:g.21828851C>T	GRCh38
NC_000001.10:g.22155344C>T , CM000663.1:g.22155344C>T	GRCh37
NC_000001.9:g.22027931C>T	NCBI36
NG_016740.1:g.113407G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.12221G>A MANE Select	NP_005520.4:p.Arg4074His
ENST00000374695.8:c.12221G>A MANE Select	ENSP00000363827.3:p.Arg4074His
NM_001291860.1:c.12224G>A	NP_001278789.1:p.Arg4075His
NM_001291860.2:c.12224G>A	NP_001278789.1:p.Arg4075His
NM_005529.6:c.12221G>A	NP_005520.4:p.Arg4074His
ENST00000374695.7:c.12221G>A	ENSP00000363827.3:p.Arg4074His
ENST00000486901.1:n.1560G>A
XM_006710594.2:c.12785G>A	XP_006710657.1:p.Arg4262His
XM_006710595.2:c.12737G>A	XP_006710658.1:p.Arg4246His
XM_006710596.2:c.12716G>A	XP_006710659.1:p.Arg4239His
XM_006710597.2:c.12239G>A	XP_006710660.1:p.Arg4080His
XM_011541317.1:c.12788G>A	XP_011539619.1:p.Arg4263His
XM_011541318.1:c.12770G>A	XP_011539620.1:p.Arg4257His
XM_011541318.2:c.12770G>A	XP_011539620.1:p.Arg4257His
XM_011541319.1:c.12788G>A	XP_011539621.1:p.Arg4263His
XM_011541320.1:c.12509G>A	XP_011539622.1:p.Arg4170His
XM_011541321.1:c.12293G>A	XP_011539623.1:p.Arg4098His
XM_017001120.1:c.12416G>A	XP_016856609.1:p.Arg4139His
XM_017001121.1:c.12365G>A	XP_016856610.1:p.Arg4122His
XM_017001122.1:c.12362G>A	XP_016856611.1:p.Arg4121His