Canonical Allele Identifier: CA338902832

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21830033G>T , CM000663.2:g.21830033G>T	GRCh38
NC_000001.10:g.22156526G>T , CM000663.1:g.22156526G>T	GRCh37
NC_000001.9:g.22029113G>T	NCBI36
NG_016740.1:g.112225C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.11730C>A MANE Select	NP_005520.4:p.Cys3910Ter
ENST00000374695.8:c.11730C>A MANE Select	ENSP00000363827.3:p.Cys3910Ter
NM_001291860.1:c.11733C>A	NP_001278789.1:p.Cys3911Ter
NM_001291860.2:c.11733C>A	NP_001278789.1:p.Cys3911Ter
NM_005529.6:c.11730C>A	NP_005520.4:p.Cys3910Ter
ENST00000374695.7:c.11730C>A	ENSP00000363827.3:p.Cys3910Ter
ENST00000486901.1:n.681C>A
ENST00000635682.1:c.881C>A
XM_006710594.2:c.12294C>A	XP_006710657.1:p.Cys4098Ter
XM_006710595.2:c.12246C>A	XP_006710658.1:p.Cys4082Ter
XM_006710596.2:c.12225C>A	XP_006710659.1:p.Cys4075Ter
XM_006710597.2:c.11748C>A	XP_006710660.1:p.Cys3916Ter
XM_011541317.1:c.12297C>A	XP_011539619.1:p.Cys4099Ter
XM_011541318.1:c.12279C>A	XP_011539620.1:p.Cys4093Ter
XM_011541318.2:c.12279C>A	XP_011539620.1:p.Cys4093Ter
XM_011541319.1:c.12297C>A	XP_011539621.1:p.Cys4099Ter
XM_011541320.1:c.12018C>A	XP_011539622.1:p.Cys4006Ter
XM_011541321.1:c.11802C>A	XP_011539623.1:p.Cys3934Ter
XM_017001120.1:c.11925C>A	XP_016856609.1:p.Cys3975Ter
XM_017001121.1:c.11874C>A	XP_016856610.1:p.Cys3958Ter
XM_017001122.1:c.11871C>A	XP_016856611.1:p.Cys3957Ter