Canonical Allele Identifier: CA669708

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21831051C>T , CM000663.2:g.21831051C>T	GRCh38
NC_000001.10:g.22157544C>T , CM000663.1:g.22157544C>T	GRCh37
NC_000001.9:g.22030131C>T	NCBI36
NG_016740.1:g.111207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.11602G>A MANE Select	ENSP00000363827.3:p.Val3868Met
ENST00000374695.7:c.11602G>A	ENSP00000363827.3:p.Val3868Met
ENST00000635682.1:c.753G>A
NM_001291860.1:c.11605G>A	NP_001278789.1:p.Val3869Met
NM_005529.6:c.11602G>A	NP_005520.4:p.Val3868Met
XM_006710594.2:c.12166G>A	XP_006710657.1:p.Val4056Met
XM_006710595.2:c.12118G>A	XP_006710658.1:p.Val4040Met
XM_006710596.2:c.12097G>A	XP_006710659.1:p.Val4033Met
XM_006710597.2:c.11620G>A	XP_006710660.1:p.Val3874Met
XM_011541317.1:c.12169G>A	XP_011539619.1:p.Val4057Met
XM_011541318.1:c.12151G>A	XP_011539620.1:p.Val4051Met
XM_011541319.1:c.12169G>A	XP_011539621.1:p.Val4057Met
XM_011541320.1:c.11890G>A	XP_011539622.1:p.Val3964Met
XM_011541321.1:c.11674G>A	XP_011539623.1:p.Val3892Met
XM_011541318.2:c.12151G>A	XP_011539620.1:p.Val4051Met
XM_017001120.1:c.11797G>A	XP_016856609.1:p.Val3933Met
XM_017001121.1:c.11746G>A	XP_016856610.1:p.Val3916Met
XM_017001122.1:c.11743G>A	XP_016856611.1:p.Val3915Met
NM_005529.7:c.11602G>A MANE Select	NP_005520.4:p.Val3868Met
NM_001291860.2:c.11605G>A	NP_001278789.1:p.Val3869Met