Canonical Allele Identifier: CA670186

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21836909G>A , CM000663.2:g.21836909G>A	GRCh38
NC_000001.10:g.22163402G>A , CM000663.1:g.22163402G>A	GRCh37
NC_000001.9:g.22035989G>A	NCBI36
NG_016740.1:g.105349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10248C>T MANE Select	ENSP00000363827.3:p.Ser3416=
ENST00000374676.4:c.183-1272C>T
ENST00000374695.7:c.10248C>T	ENSP00000363827.3:p.Ser3416=
ENST00000471322.2:n.9C>T
NM_001291860.1:c.10251C>T	NP_001278789.1:p.Ser3417=
NM_005529.6:c.10248C>T	NP_005520.4:p.Ser3416=
XM_006710594.2:c.10794C>T	XP_006710657.1:p.Ser3598=
XM_006710595.2:c.10746C>T	XP_006710658.1:p.Ser3582=
XM_006710596.2:c.10725C>T	XP_006710659.1:p.Ser3575=
XM_006710597.2:c.10248C>T	XP_006710660.1:p.Ser3416=
XM_011541317.1:c.10797C>T	XP_011539619.1:p.Ser3599=
XM_011541318.1:c.10797C>T	XP_011539620.1:p.Ser3599=
XM_011541319.1:c.10797C>T	XP_011539621.1:p.Ser3599=
XM_011541320.1:c.10518C>T	XP_011539622.1:p.Ser3506=
XM_011541321.1:c.10302C>T	XP_011539623.1:p.Ser3434=
XM_011541318.2:c.10797C>T	XP_011539620.1:p.Ser3599=
XM_017001120.1:c.10443C>T	XP_016856609.1:p.Ser3481=
XM_017001121.1:c.10392C>T	XP_016856610.1:p.Ser3464=
XM_017001122.1:c.10389C>T	XP_016856611.1:p.Ser3463=
NM_005529.7:c.10248C>T MANE Select	NP_005520.4:p.Ser3416=
NM_001291860.2:c.10251C>T	NP_001278789.1:p.Ser3417=