Canonical Allele Identifier: CA416547197

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839937C>T , CM000663.2:g.21839937C>T	GRCh38
NC_000001.10:g.22166430C>T , CM000663.1:g.22166430C>T	GRCh37
NC_000001.9:g.22039017C>T	NCBI36
NG_016740.1:g.102321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.9594G>A MANE Select	NP_005520.4:p.Val3198=
ENST00000374695.8:c.9594G>A MANE Select	ENSP00000363827.3:p.Val3198=
NM_001291860.1:c.9597G>A	NP_001278789.1:p.Val3199=
NM_001291860.2:c.9597G>A	NP_001278789.1:p.Val3199=
NM_005529.6:c.9594G>A	NP_005520.4:p.Val3198=
ENST00000374695.7:c.9594G>A	ENSP00000363827.3:p.Val3198=
XM_006710594.2:c.10140G>A	XP_006710657.1:p.Val3380=
XM_006710595.2:c.10092G>A	XP_006710658.1:p.Val3364=
XM_006710596.2:c.10071G>A	XP_006710659.1:p.Val3357=
XM_006710597.2:c.9594G>A	XP_006710660.1:p.Val3198=
XM_011541317.1:c.10143G>A	XP_011539619.1:p.Val3381=
XM_011541318.1:c.10143G>A	XP_011539620.1:p.Val3381=
XM_011541318.2:c.10143G>A	XP_011539620.1:p.Val3381=
XM_011541319.1:c.10143G>A	XP_011539621.1:p.Val3381=
XM_011541320.1:c.9864G>A	XP_011539622.1:p.Val3288=
XM_011541321.1:c.9648G>A	XP_011539623.1:p.Val3216=
XM_017001120.1:c.9789G>A	XP_016856609.1:p.Val3263=
XM_017001121.1:c.9738G>A	XP_016856610.1:p.Val3246=
XM_017001122.1:c.9735G>A	XP_016856611.1:p.Val3245=