Canonical Allele Identifier: CA671186

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21850043G>C , CM000663.2:g.21850043G>C	GRCh38
NC_000001.10:g.22176536G>C , CM000663.1:g.22176536G>C	GRCh37
NC_000001.9:g.22049123G>C	NCBI36
NG_016740.1:g.92215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.7444C>G MANE Select	ENSP00000363827.3:p.Gln2482Glu
ENST00000374695.7:c.7444C>G	ENSP00000363827.3:p.Gln2482Glu
NM_001291860.1:c.7447C>G	NP_001278789.1:p.Gln2483Glu
NM_005529.6:c.7444C>G	NP_005520.4:p.Gln2482Glu
XM_006710594.2:c.7990C>G	XP_006710657.1:p.Gln2664Glu
XM_006710595.2:c.7942C>G	XP_006710658.1:p.Gln2648Glu
XM_006710596.2:c.7921C>G	XP_006710659.1:p.Gln2641Glu
XM_006710597.2:c.7444C>G	XP_006710660.1:p.Gln2482Glu
XM_011541317.1:c.7993C>G	XP_011539619.1:p.Gln2665Glu
XM_011541318.1:c.7993C>G	XP_011539620.1:p.Gln2665Glu
XM_011541319.1:c.7993C>G	XP_011539621.1:p.Gln2665Glu
XM_011541320.1:c.7714C>G	XP_011539622.1:p.Gln2572Glu
XM_011541321.1:c.7498C>G	XP_011539623.1:p.Gln2500Glu
XM_011541318.2:c.7993C>G	XP_011539620.1:p.Gln2665Glu
XM_017001120.1:c.7639C>G	XP_016856609.1:p.Gln2547Glu
XM_017001121.1:c.7588C>G	XP_016856610.1:p.Gln2530Glu
XM_017001122.1:c.7585C>G	XP_016856611.1:p.Gln2529Glu
NM_005529.7:c.7444C>G MANE Select	NP_005520.4:p.Gln2482Glu
NM_001291860.2:c.7447C>G	NP_001278789.1:p.Gln2483Glu