Canonical Allele Identifier: CA670507

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841633G>A , CM000663.2:g.21841633G>A	GRCh38
NC_000001.10:g.22168126G>A , CM000663.1:g.22168126G>A	GRCh37
NC_000001.9:g.22040713G>A	NCBI36
NG_016740.1:g.100625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9234C>T MANE Select	ENSP00000363827.3:p.Ile3078=
ENST00000374695.7:c.9234C>T	ENSP00000363827.3:p.Ile3078=
NM_001291860.1:c.9237C>T	NP_001278789.1:p.Ile3079=
NM_005529.6:c.9234C>T	NP_005520.4:p.Ile3078=
XM_006710594.2:c.9780C>T	XP_006710657.1:p.Ile3260=
XM_006710595.2:c.9732C>T	XP_006710658.1:p.Ile3244=
XM_006710596.2:c.9711C>T	XP_006710659.1:p.Ile3237=
XM_006710597.2:c.9234C>T	XP_006710660.1:p.Ile3078=
XM_011541317.1:c.9783C>T	XP_011539619.1:p.Ile3261=
XM_011541318.1:c.9783C>T	XP_011539620.1:p.Ile3261=
XM_011541319.1:c.9783C>T	XP_011539621.1:p.Ile3261=
XM_011541320.1:c.9504C>T	XP_011539622.1:p.Ile3168=
XM_011541321.1:c.9288C>T	XP_011539623.1:p.Ile3096=
XM_011541318.2:c.9783C>T	XP_011539620.1:p.Ile3261=
XM_017001120.1:c.9429C>T	XP_016856609.1:p.Ile3143=
XM_017001121.1:c.9378C>T	XP_016856610.1:p.Ile3126=
XM_017001122.1:c.9375C>T	XP_016856611.1:p.Ile3125=
NM_005529.7:c.9234C>T MANE Select	NP_005520.4:p.Ile3078=
NM_001291860.2:c.9237C>T	NP_001278789.1:p.Ile3079=