Canonical Allele Identifier: CA338943512

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21857383C>T , CM000663.2:g.21857383C>T	GRCh38
NC_000001.10:g.22183876C>T , CM000663.1:g.22183876C>T	GRCh37
NC_000001.9:g.22056463C>T	NCBI36
NG_016740.1:g.84875G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.5296G>A MANE Select	NP_005520.4:p.Ala1766Thr
ENST00000374695.8:c.5296G>A MANE Select	ENSP00000363827.3:p.Ala1766Thr
NM_001291860.1:c.5299G>A	NP_001278789.1:p.Ala1767Thr
NM_001291860.2:c.5299G>A	NP_001278789.1:p.Ala1767Thr
NM_005529.6:c.5296G>A	NP_005520.4:p.Ala1766Thr
ENST00000374695.7:c.5296G>A	ENSP00000363827.3:p.Ala1766Thr
XM_006710594.2:c.5842G>A	XP_006710657.1:p.Ala1948Thr
XM_006710595.2:c.5794G>A	XP_006710658.1:p.Ala1932Thr
XM_006710596.2:c.5773G>A	XP_006710659.1:p.Ala1925Thr
XM_006710597.2:c.5296G>A	XP_006710660.1:p.Ala1766Thr
XM_011541317.1:c.5845G>A	XP_011539619.1:p.Ala1949Thr
XM_011541318.1:c.5845G>A	XP_011539620.1:p.Ala1949Thr
XM_011541318.2:c.5845G>A	XP_011539620.1:p.Ala1949Thr
XM_011541319.1:c.5845G>A	XP_011539621.1:p.Ala1949Thr
XM_011541320.1:c.5845G>A	XP_011539622.1:p.Ala1949Thr
XM_011541321.1:c.5350G>A	XP_011539623.1:p.Ala1784Thr
XM_011541322.1:c.5845G>A	XP_011539624.1:p.Ala1949Thr
XM_017001120.1:c.5491G>A	XP_016856609.1:p.Ala1831Thr
XM_017001121.1:c.5440G>A	XP_016856610.1:p.Ala1814Thr
XM_017001122.1:c.5437G>A	XP_016856611.1:p.Ala1813Thr