Canonical Allele Identifier: CA670330

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839470T>C , CM000663.2:g.21839470T>C	GRCh38
NC_000001.10:g.22165963T>C , CM000663.1:g.22165963T>C	GRCh37
NC_000001.9:g.22038550T>C	NCBI36
NG_016740.1:g.102788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9790A>G MANE Select	ENSP00000363827.3:p.Ile3264Val
ENST00000374695.7:c.9790A>G	ENSP00000363827.3:p.Ile3264Val
NM_001291860.1:c.9793A>G	NP_001278789.1:p.Ile3265Val
NM_005529.6:c.9790A>G	NP_005520.4:p.Ile3264Val
XM_006710594.2:c.10336A>G	XP_006710657.1:p.Ile3446Val
XM_006710595.2:c.10288A>G	XP_006710658.1:p.Ile3430Val
XM_006710596.2:c.10267A>G	XP_006710659.1:p.Ile3423Val
XM_006710597.2:c.9790A>G	XP_006710660.1:p.Ile3264Val
XM_011541317.1:c.10339A>G	XP_011539619.1:p.Ile3447Val
XM_011541318.1:c.10339A>G	XP_011539620.1:p.Ile3447Val
XM_011541319.1:c.10339A>G	XP_011539621.1:p.Ile3447Val
XM_011541320.1:c.10060A>G	XP_011539622.1:p.Ile3354Val
XM_011541321.1:c.9844A>G	XP_011539623.1:p.Ile3282Val
XM_011541318.2:c.10339A>G	XP_011539620.1:p.Ile3447Val
XM_017001120.1:c.9985A>G	XP_016856609.1:p.Ile3329Val
XM_017001121.1:c.9934A>G	XP_016856610.1:p.Ile3312Val
XM_017001122.1:c.9931A>G	XP_016856611.1:p.Ile3311Val
NM_005529.7:c.9790A>G MANE Select	NP_005520.4:p.Ile3264Val
NM_001291860.2:c.9793A>G	NP_001278789.1:p.Ile3265Val