Canonical Allele Identifier: CA671524

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21853018C>T , CM000663.2:g.21853018C>T	GRCh38
NC_000001.10:g.22179511C>T , CM000663.1:g.22179511C>T	GRCh37
NC_000001.9:g.22052098C>T	NCBI36
NG_016740.1:g.89240G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.6492G>A MANE Select	NP_005520.4:p.Ala2164=
ENST00000374695.8:c.6492G>A MANE Select	ENSP00000363827.3:p.Ala2164=
NM_001291860.1:c.6495G>A	NP_001278789.1:p.Ala2165=
NM_001291860.2:c.6495G>A	NP_001278789.1:p.Ala2165=
NM_005529.6:c.6492G>A	NP_005520.4:p.Ala2164=
ENST00000374695.7:c.6492G>A	ENSP00000363827.3:p.Ala2164=
ENST00000493940.2:n.250G>A
XM_006710594.2:c.7038G>A	XP_006710657.1:p.Ala2346=
XM_006710595.2:c.6990G>A	XP_006710658.1:p.Ala2330=
XM_006710596.2:c.6969G>A	XP_006710659.1:p.Ala2323=
XM_006710597.2:c.6492G>A	XP_006710660.1:p.Ala2164=
XM_011541317.1:c.7041G>A	XP_011539619.1:p.Ala2347=
XM_011541318.1:c.7041G>A	XP_011539620.1:p.Ala2347=
XM_011541318.2:c.7041G>A	XP_011539620.1:p.Ala2347=
XM_011541319.1:c.7041G>A	XP_011539621.1:p.Ala2347=
XM_011541320.1:c.7041G>A	XP_011539622.1:p.Ala2347=
XM_011541321.1:c.6546G>A	XP_011539623.1:p.Ala2182=
XM_011541322.1:c.7041G>A	XP_011539624.1:p.Ala2347=
XM_017001120.1:c.6687G>A	XP_016856609.1:p.Ala2229=
XM_017001121.1:c.6636G>A	XP_016856610.1:p.Ala2212=
XM_017001122.1:c.6633G>A	XP_016856611.1:p.Ala2211=