Canonical Allele Identifier: CA671825

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21855778C>T , CM000663.2:g.21855778C>T	GRCh38
NC_000001.10:g.22182271C>T , CM000663.1:g.22182271C>T	GRCh37
NC_000001.9:g.22054858C>T	NCBI36
NG_016740.1:g.86480G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.5701+9G>A MANE Select	NP_005520.4:n.5701+9G>A
ENST00000374695.8:c.5701+9G>A MANE Select	ENSP00000363827.3:n.5701+9G>A
NM_001291860.1:c.5704+9G>A	NP_001278789.1:n.5704+9G>A
NM_001291860.2:c.5704+9G>A	NP_001278789.1:n.5704+9G>A
NM_005529.6:c.5701+9G>A	NP_005520.4:n.5701+9G>A
ENST00000374695.7:c.5701+9G>A	ENSP00000363827.3:n.5701+9G>A
XM_006710594.2:c.6247+9G>A	XP_006710657.1:n.6247+9G>A
XM_006710595.2:c.6199+9G>A	XP_006710658.1:n.6199+9G>A
XM_006710596.2:c.6178+9G>A	XP_006710659.1:n.6178+9G>A
XM_006710597.2:c.5701+9G>A	XP_006710660.1:n.5701+9G>A
XM_011541317.1:c.6250+9G>A	XP_011539619.1:n.6250+9G>A
XM_011541318.1:c.6250+9G>A	XP_011539620.1:n.6250+9G>A
XM_011541318.2:c.6250+9G>A	XP_011539620.1:n.6250+9G>A
XM_011541319.1:c.6250+9G>A	XP_011539621.1:n.6250+9G>A
XM_011541320.1:c.6250+9G>A	XP_011539622.1:n.6250+9G>A
XM_011541321.1:c.5755+9G>A	XP_011539623.1:n.5755+9G>A
XM_011541322.1:c.6250+9G>A	XP_011539624.1:n.6250+9G>A
XM_017001120.1:c.5896+9G>A	XP_016856609.1:n.5896+9G>A
XM_017001121.1:c.5845+9G>A	XP_016856610.1:n.5845+9G>A
XM_017001122.1:c.5842+9G>A	XP_016856611.1:n.5842+9G>A