Canonical Allele Identifier: CA670910
Community Standard Title: NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21847367G>T , CM000663.2:g.21847367G>T GRCh38
NC_000001.10:g.22173860G>T , CM000663.1:g.22173860G>T GRCh37
NC_000001.9:g.22046447G>T NCBI36
NG_016740.1:g.94891C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.8151C>A MANE Select NP_005520.4:p.Ala2717=
ENST00000374695.8:c.8151C>A MANE Select ENSP00000363827.3:p.Ala2717=
NM_001291860.1:c.8154C>A NP_001278789.1:p.Ala2718=
NM_001291860.2:c.8154C>A NP_001278789.1:p.Ala2718=
NM_005529.6:c.8151C>A NP_005520.4:p.Ala2717=
ENST00000374695.7:c.8151C>A ENSP00000363827.3:p.Ala2717=
ENST00000453796.1:n.396C>A
XM_006710594.2:c.8697C>A XP_006710657.1:p.Ala2899=
XM_006710595.2:c.8649C>A XP_006710658.1:p.Ala2883=
XM_006710596.2:c.8628C>A XP_006710659.1:p.Ala2876=
XM_006710597.2:c.8151C>A XP_006710660.1:p.Ala2717=
XM_011541317.1:c.8700C>A XP_011539619.1:p.Ala2900=
XM_011541318.1:c.8700C>A XP_011539620.1:p.Ala2900=
XM_011541318.2:c.8700C>A XP_011539620.1:p.Ala2900=
XM_011541319.1:c.8700C>A XP_011539621.1:p.Ala2900=
XM_011541320.1:c.8421C>A XP_011539622.1:p.Ala2807=
XM_011541321.1:c.8205C>A XP_011539623.1:p.Ala2735=
XM_017001120.1:c.8346C>A XP_016856609.1:p.Ala2782=
XM_017001121.1:c.8295C>A XP_016856610.1:p.Ala2765=
XM_017001122.1:c.8292C>A XP_016856611.1:p.Ala2764=