Canonical Allele Identifier: CA670586
Community Standard Title: NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21842261C>T , CM000663.2:g.21842261C>T GRCh38
NC_000001.10:g.22168754C>T , CM000663.1:g.22168754C>T GRCh37
NC_000001.9:g.22041341C>T NCBI36
NG_016740.1:g.99997G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.9030G>A MANE Select NP_005520.4:p.Pro3010=
ENST00000374695.8:c.9030G>A MANE Select ENSP00000363827.3:p.Pro3010=
NM_001291860.1:c.9033G>A NP_001278789.1:p.Pro3011=
NM_001291860.2:c.9033G>A NP_001278789.1:p.Pro3011=
NM_005529.6:c.9030G>A NP_005520.4:p.Pro3010=
ENST00000374695.7:c.9030G>A ENSP00000363827.3:p.Pro3010=
XM_006710594.2:c.9576G>A XP_006710657.1:p.Pro3192=
XM_006710595.2:c.9528G>A XP_006710658.1:p.Pro3176=
XM_006710596.2:c.9507G>A XP_006710659.1:p.Pro3169=
XM_006710597.2:c.9030G>A XP_006710660.1:p.Pro3010=
XM_011541317.1:c.9579G>A XP_011539619.1:p.Pro3193=
XM_011541318.1:c.9579G>A XP_011539620.1:p.Pro3193=
XM_011541318.2:c.9579G>A XP_011539620.1:p.Pro3193=
XM_011541319.1:c.9579G>A XP_011539621.1:p.Pro3193=
XM_011541320.1:c.9300G>A XP_011539622.1:p.Pro3100=
XM_011541321.1:c.9084G>A XP_011539623.1:p.Pro3028=
XM_017001120.1:c.9225G>A XP_016856609.1:p.Pro3075=
XM_017001121.1:c.9174G>A XP_016856610.1:p.Pro3058=
XM_017001122.1:c.9171G>A XP_016856611.1:p.Pro3057=