Canonical Allele Identifier: CA669649

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21830012C>T , CM000663.2:g.21830012C>T	GRCh38
NC_000001.10:g.22156505C>T , CM000663.1:g.22156505C>T	GRCh37
NC_000001.9:g.22029092C>T	NCBI36
NG_016740.1:g.112246G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.11751G>A MANE Select	NP_005520.4:p.Ser3917=
ENST00000374695.8:c.11751G>A MANE Select	ENSP00000363827.3:p.Ser3917=
NM_001291860.1:c.11754G>A	NP_001278789.1:p.Ser3918=
NM_001291860.2:c.11754G>A	NP_001278789.1:p.Ser3918=
NM_005529.6:c.11751G>A	NP_005520.4:p.Ser3917=
ENST00000374695.7:c.11751G>A	ENSP00000363827.3:p.Ser3917=
ENST00000486901.1:n.702G>A
ENST00000635682.1:c.902G>A
XM_006710594.2:c.12315G>A	XP_006710657.1:p.Ser4105=
XM_006710595.2:c.12267G>A	XP_006710658.1:p.Ser4089=
XM_006710596.2:c.12246G>A	XP_006710659.1:p.Ser4082=
XM_006710597.2:c.11769G>A	XP_006710660.1:p.Ser3923=
XM_011541317.1:c.12318G>A	XP_011539619.1:p.Ser4106=
XM_011541318.1:c.12300G>A	XP_011539620.1:p.Ser4100=
XM_011541318.2:c.12300G>A	XP_011539620.1:p.Ser4100=
XM_011541319.1:c.12318G>A	XP_011539621.1:p.Ser4106=
XM_011541320.1:c.12039G>A	XP_011539622.1:p.Ser4013=
XM_011541321.1:c.11823G>A	XP_011539623.1:p.Ser3941=
XM_017001120.1:c.11946G>A	XP_016856609.1:p.Ser3982=
XM_017001121.1:c.11895G>A	XP_016856610.1:p.Ser3965=
XM_017001122.1:c.11892G>A	XP_016856611.1:p.Ser3964=