Canonical Allele Identifier: CA671482

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21852836T>C , CM000663.2:g.21852836T>C	GRCh38
NC_000001.10:g.22179329T>C , CM000663.1:g.22179329T>C	GRCh37
NC_000001.9:g.22051916T>C	NCBI36
NG_016740.1:g.89422A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.6592-4A>G MANE Select	NP_005520.4:n.6592-4A>G
ENST00000374695.8:c.6592-4A>G MANE Select	ENSP00000363827.3:n.6592-4A>G
NM_001291860.1:c.6595-4A>G	NP_001278789.1:n.6595-4A>G
NM_001291860.2:c.6595-4A>G	NP_001278789.1:n.6595-4A>G
NM_005529.6:c.6592-4A>G	NP_005520.4:n.6592-4A>G
ENST00000374695.7:c.6592-4A>G	ENSP00000363827.3:n.6592-4A>G
ENST00000493940.2:n.304+128A>G
XM_006710594.2:c.7138-4A>G	XP_006710657.1:n.7138-4A>G
XM_006710595.2:c.7090-4A>G	XP_006710658.1:n.7090-4A>G
XM_006710596.2:c.7069-4A>G	XP_006710659.1:n.7069-4A>G
XM_006710597.2:c.6592-4A>G	XP_006710660.1:n.6592-4A>G
XM_011541317.1:c.7141-4A>G	XP_011539619.1:n.7141-4A>G
XM_011541318.1:c.7141-4A>G	XP_011539620.1:n.7141-4A>G
XM_011541318.2:c.7141-4A>G	XP_011539620.1:n.7141-4A>G
XM_011541319.1:c.7141-4A>G	XP_011539621.1:n.7141-4A>G
XM_011541320.1:c.7140+83A>G	XP_011539622.1:n.7140+83A>G
XM_011541321.1:c.6646-4A>G	XP_011539623.1:n.6646-4A>G
XM_011541322.1:c.7141-4A>G	XP_011539624.1:n.7141-4A>G
XM_017001120.1:c.6787-4A>G	XP_016856609.1:n.6787-4A>G
XM_017001121.1:c.6736-4A>G	XP_016856610.1:n.6736-4A>G
XM_017001122.1:c.6733-4A>G	XP_016856611.1:n.6733-4A>G