Canonical Allele Identifier: CA669542

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21829060G>A , CM000663.2:g.21829060G>A	GRCh38
NC_000001.10:g.22155553G>A , CM000663.1:g.22155553G>A	GRCh37
NC_000001.9:g.22028140G>A	NCBI36
NG_016740.1:g.113198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.12012C>T MANE Select	ENSP00000363827.3:p.Ser4004=
ENST00000374695.7:c.12012C>T	ENSP00000363827.3:p.Ser4004=
ENST00000486901.1:n.1351C>T
NM_001291860.1:c.12015C>T	NP_001278789.1:p.Ser4005=
NM_005529.6:c.12012C>T	NP_005520.4:p.Ser4004=
XM_006710594.2:c.12576C>T	XP_006710657.1:p.Ser4192=
XM_006710595.2:c.12528C>T	XP_006710658.1:p.Ser4176=
XM_006710596.2:c.12507C>T	XP_006710659.1:p.Ser4169=
XM_006710597.2:c.12030C>T	XP_006710660.1:p.Ser4010=
XM_011541317.1:c.12579C>T	XP_011539619.1:p.Ser4193=
XM_011541318.1:c.12561C>T	XP_011539620.1:p.Ser4187=
XM_011541319.1:c.12579C>T	XP_011539621.1:p.Ser4193=
XM_011541320.1:c.12300C>T	XP_011539622.1:p.Ser4100=
XM_011541321.1:c.12084C>T	XP_011539623.1:p.Ser4028=
XM_011541318.2:c.12561C>T	XP_011539620.1:p.Ser4187=
XM_017001120.1:c.12207C>T	XP_016856609.1:p.Ser4069=
XM_017001121.1:c.12156C>T	XP_016856610.1:p.Ser4052=
XM_017001122.1:c.12153C>T	XP_016856611.1:p.Ser4051=
NM_005529.7:c.12012C>T MANE Select	NP_005520.4:p.Ser4004=
NM_001291860.2:c.12015C>T	NP_001278789.1:p.Ser4005=