Canonical Allele Identifier: CA338915593

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842251C>G , CM000663.2:g.21842251C>G	GRCh38
NC_000001.10:g.22168744C>G , CM000663.1:g.22168744C>G	GRCh37
NC_000001.9:g.22041331C>G	NCBI36
NG_016740.1:g.100007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9040G>C MANE Select	ENSP00000363827.3:p.Gly3014Arg
ENST00000374695.7:c.9040G>C	ENSP00000363827.3:p.Gly3014Arg
NM_001291860.1:c.9043G>C	NP_001278789.1:p.Gly3015Arg
NM_005529.6:c.9040G>C	NP_005520.4:p.Gly3014Arg
XM_006710594.2:c.9586G>C	XP_006710657.1:p.Gly3196Arg
XM_006710595.2:c.9538G>C	XP_006710658.1:p.Gly3180Arg
XM_006710596.2:c.9517G>C	XP_006710659.1:p.Gly3173Arg
XM_006710597.2:c.9040G>C	XP_006710660.1:p.Gly3014Arg
XM_011541317.1:c.9589G>C	XP_011539619.1:p.Gly3197Arg
XM_011541318.1:c.9589G>C	XP_011539620.1:p.Gly3197Arg
XM_011541319.1:c.9589G>C	XP_011539621.1:p.Gly3197Arg
XM_011541320.1:c.9310G>C	XP_011539622.1:p.Gly3104Arg
XM_011541321.1:c.9094G>C	XP_011539623.1:p.Gly3032Arg
XM_011541318.2:c.9589G>C	XP_011539620.1:p.Gly3197Arg
XM_017001120.1:c.9235G>C	XP_016856609.1:p.Gly3079Arg
XM_017001121.1:c.9184G>C	XP_016856610.1:p.Gly3062Arg
XM_017001122.1:c.9181G>C	XP_016856611.1:p.Gly3061Arg
NM_005529.7:c.9040G>C MANE Select	NP_005520.4:p.Gly3014Arg
NM_001291860.2:c.9043G>C	NP_001278789.1:p.Gly3015Arg