Canonical Allele Identifier: CA669689

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21830971G>A , CM000663.2:g.21830971G>A	GRCh38
NC_000001.10:g.22157464G>A , CM000663.1:g.22157464G>A	GRCh37
NC_000001.9:g.22030051G>A	NCBI36
NG_016740.1:g.111287C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.11671+11C>T MANE Select	NP_005520.4:n.11671+11C>T
ENST00000374695.8:c.11671+11C>T MANE Select	ENSP00000363827.3:n.11671+11C>T
NM_001291860.1:c.11674+11C>T	NP_001278789.1:n.11674+11C>T
NM_001291860.2:c.11674+11C>T	NP_001278789.1:n.11674+11C>T
NM_005529.6:c.11671+11C>T	NP_005520.4:n.11671+11C>T
ENST00000374695.7:c.11671+11C>T	ENSP00000363827.3:n.11671+11C>T
ENST00000635682.1:c.822+11C>T
XM_006710594.2:c.12235+11C>T	XP_006710657.1:n.12235+11C>T
XM_006710595.2:c.12187+11C>T	XP_006710658.1:n.12187+11C>T
XM_006710596.2:c.12166+11C>T	XP_006710659.1:n.12166+11C>T
XM_006710597.2:c.11689+11C>T	XP_006710660.1:n.11689+11C>T
XM_011541317.1:c.12238+11C>T	XP_011539619.1:n.12238+11C>T
XM_011541318.1:c.12220+11C>T	XP_011539620.1:n.12220+11C>T
XM_011541318.2:c.12220+11C>T	XP_011539620.1:n.12220+11C>T
XM_011541319.1:c.12238+11C>T	XP_011539621.1:n.12238+11C>T
XM_011541320.1:c.11959+11C>T	XP_011539622.1:n.11959+11C>T
XM_011541321.1:c.11743+11C>T	XP_011539623.1:n.11743+11C>T
XM_017001120.1:c.11866+11C>T	XP_016856609.1:n.11866+11C>T
XM_017001121.1:c.11815+11C>T	XP_016856610.1:n.11815+11C>T
XM_017001122.1:c.11812+11C>T	XP_016856611.1:n.11812+11C>T