Canonical Allele Identifier: CA338912093

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839005C>G , CM000663.2:g.21839005C>G	GRCh38
NC_000001.10:g.22165498C>G , CM000663.1:g.22165498C>G	GRCh37
NC_000001.9:g.22038085C>G	NCBI36
NG_016740.1:g.103253G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.9970G>C MANE Select	NP_005520.4:p.Gly3324Arg
ENST00000374695.8:c.9970G>C MANE Select	ENSP00000363827.3:p.Gly3324Arg
NM_001291860.1:c.9973G>C	NP_001278789.1:p.Gly3325Arg
NM_001291860.2:c.9973G>C	NP_001278789.1:p.Gly3325Arg
NM_005529.6:c.9970G>C	NP_005520.4:p.Gly3324Arg
ENST00000374676.4:c.2G>C
ENST00000374695.7:c.9970G>C	ENSP00000363827.3:p.Gly3324Arg
XM_006710594.2:c.10516G>C	XP_006710657.1:p.Gly3506Arg
XM_006710595.2:c.10468G>C	XP_006710658.1:p.Gly3490Arg
XM_006710596.2:c.10447G>C	XP_006710659.1:p.Gly3483Arg
XM_006710597.2:c.9970G>C	XP_006710660.1:p.Gly3324Arg
XM_011541317.1:c.10519G>C	XP_011539619.1:p.Gly3507Arg
XM_011541318.1:c.10519G>C	XP_011539620.1:p.Gly3507Arg
XM_011541318.2:c.10519G>C	XP_011539620.1:p.Gly3507Arg
XM_011541319.1:c.10519G>C	XP_011539621.1:p.Gly3507Arg
XM_011541320.1:c.10240G>C	XP_011539622.1:p.Gly3414Arg
XM_011541321.1:c.10024G>C	XP_011539623.1:p.Gly3342Arg
XM_017001120.1:c.10165G>C	XP_016856609.1:p.Gly3389Arg
XM_017001121.1:c.10114G>C	XP_016856610.1:p.Gly3372Arg
XM_017001122.1:c.10111G>C	XP_016856611.1:p.Gly3371Arg