Canonical Allele Identifier: CA670588

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842267G>A , CM000663.2:g.21842267G>A	GRCh38
NC_000001.10:g.22168760G>A , CM000663.1:g.22168760G>A	GRCh37
NC_000001.9:g.22041347G>A	NCBI36
NG_016740.1:g.99991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.9024C>T MANE Select	NP_005520.4:p.Thr3008=
ENST00000374695.8:c.9024C>T MANE Select	ENSP00000363827.3:p.Thr3008=
NM_001291860.1:c.9027C>T	NP_001278789.1:p.Thr3009=
NM_001291860.2:c.9027C>T	NP_001278789.1:p.Thr3009=
NM_005529.6:c.9024C>T	NP_005520.4:p.Thr3008=
ENST00000374695.7:c.9024C>T	ENSP00000363827.3:p.Thr3008=
XM_006710594.2:c.9570C>T	XP_006710657.1:p.Thr3190=
XM_006710595.2:c.9522C>T	XP_006710658.1:p.Thr3174=
XM_006710596.2:c.9501C>T	XP_006710659.1:p.Thr3167=
XM_006710597.2:c.9024C>T	XP_006710660.1:p.Thr3008=
XM_011541317.1:c.9573C>T	XP_011539619.1:p.Thr3191=
XM_011541318.1:c.9573C>T	XP_011539620.1:p.Thr3191=
XM_011541318.2:c.9573C>T	XP_011539620.1:p.Thr3191=
XM_011541319.1:c.9573C>T	XP_011539621.1:p.Thr3191=
XM_011541320.1:c.9294C>T	XP_011539622.1:p.Thr3098=
XM_011541321.1:c.9078C>T	XP_011539623.1:p.Thr3026=
XM_017001120.1:c.9219C>T	XP_016856609.1:p.Thr3073=
XM_017001121.1:c.9168C>T	XP_016856610.1:p.Thr3056=
XM_017001122.1:c.9165C>T	XP_016856611.1:p.Thr3055=