Canonical Allele Identifier: CA338966259

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21881369C>G , CM000663.2:g.21881369C>G	GRCh38
NC_000001.10:g.22207862C>G , CM000663.1:g.22207862C>G	GRCh37
NC_000001.9:g.22080449C>G	NCBI36
NG_016740.1:g.60889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.1788G>C MANE Select	ENSP00000363827.3:p.Trp596Cys
ENST00000374695.7:c.1788G>C	ENSP00000363827.3:p.Trp596Cys
NM_001291860.1:c.1791G>C	NP_001278789.1:p.Trp597Cys
NM_005529.6:c.1788G>C	NP_005520.4:p.Trp596Cys
XM_006710594.2:c.1839G>C	XP_006710657.1:p.Trp613Cys
XM_006710595.2:c.1791G>C	XP_006710658.1:p.Trp597Cys
XM_006710596.2:c.1842G>C	XP_006710659.1:p.Trp614Cys
XM_006710597.2:c.1788G>C	XP_006710660.1:p.Trp596Cys
XM_011541317.1:c.1842G>C	XP_011539619.1:p.Trp614Cys
XM_011541318.1:c.1842G>C	XP_011539620.1:p.Trp614Cys
XM_011541319.1:c.1842G>C	XP_011539621.1:p.Trp614Cys
XM_011541320.1:c.1842G>C	XP_011539622.1:p.Trp614Cys
XM_011541321.1:c.1842G>C	XP_011539623.1:p.Trp614Cys
XM_011541322.1:c.1842G>C	XP_011539624.1:p.Trp614Cys
XM_011541318.2:c.1842G>C	XP_011539620.1:p.Trp614Cys
XM_017001120.1:c.1983G>C	XP_016856609.1:p.Trp661Cys
XM_017001121.1:c.1932G>C	XP_016856610.1:p.Trp644Cys
XM_017001122.1:c.1929G>C	XP_016856611.1:p.Trp643Cys
NM_005529.7:c.1788G>C MANE Select	NP_005520.4:p.Trp596Cys
NM_001291860.2:c.1791G>C	NP_001278789.1:p.Trp597Cys