Canonical Allele Identifier: CA670608

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842362G>A , CM000663.2:g.21842362G>A	GRCh38
NC_000001.10:g.22168855G>A , CM000663.1:g.22168855G>A	GRCh37
NC_000001.9:g.22041442G>A	NCBI36
NG_016740.1:g.99896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.8929C>T MANE Select	ENSP00000363827.3:p.Arg2977Trp
ENST00000374695.7:c.8929C>T	ENSP00000363827.3:p.Arg2977Trp
NM_001291860.1:c.8932C>T	NP_001278789.1:p.Arg2978Trp
NM_005529.6:c.8929C>T	NP_005520.4:p.Arg2977Trp
XM_006710594.2:c.9475C>T	XP_006710657.1:p.Arg3159Trp
XM_006710595.2:c.9427C>T	XP_006710658.1:p.Arg3143Trp
XM_006710596.2:c.9406C>T	XP_006710659.1:p.Arg3136Trp
XM_006710597.2:c.8929C>T	XP_006710660.1:p.Arg2977Trp
XM_011541317.1:c.9478C>T	XP_011539619.1:p.Arg3160Trp
XM_011541318.1:c.9478C>T	XP_011539620.1:p.Arg3160Trp
XM_011541319.1:c.9478C>T	XP_011539621.1:p.Arg3160Trp
XM_011541320.1:c.9199C>T	XP_011539622.1:p.Arg3067Trp
XM_011541321.1:c.8983C>T	XP_011539623.1:p.Arg2995Trp
XM_011541318.2:c.9478C>T	XP_011539620.1:p.Arg3160Trp
XM_017001120.1:c.9124C>T	XP_016856609.1:p.Arg3042Trp
XM_017001121.1:c.9073C>T	XP_016856610.1:p.Arg3025Trp
XM_017001122.1:c.9070C>T	XP_016856611.1:p.Arg3024Trp
NM_005529.7:c.8929C>T MANE Select	NP_005520.4:p.Arg2977Trp
NM_001291860.2:c.8932C>T	NP_001278789.1:p.Arg2978Trp