Canonical Allele Identifier: CA338910825
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21836880T>C , CM000663.2:g.21836880T>C GRCh38
NC_000001.10:g.22163373T>C , CM000663.1:g.22163373T>C GRCh37
NC_000001.9:g.22035960T>C NCBI36
NG_016740.1:g.105378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.10277A>G MANE Select ENSP00000363827.3:p.Asp3426Gly
ENST00000374676.4:c.183-1243A>G
ENST00000374695.7:c.10277A>G ENSP00000363827.3:p.Asp3426Gly
ENST00000471322.2:n.38A>G
NM_001291860.1:c.10280A>G NP_001278789.1:p.Asp3427Gly
NM_005529.6:c.10277A>G NP_005520.4:p.Asp3426Gly
XM_006710594.2:c.10823A>G XP_006710657.1:p.Asp3608Gly
XM_006710595.2:c.10775A>G XP_006710658.1:p.Asp3592Gly
XM_006710596.2:c.10754A>G XP_006710659.1:p.Asp3585Gly
XM_006710597.2:c.10277A>G XP_006710660.1:p.Asp3426Gly
XM_011541317.1:c.10826A>G XP_011539619.1:p.Asp3609Gly
XM_011541318.1:c.10826A>G XP_011539620.1:p.Asp3609Gly
XM_011541319.1:c.10826A>G XP_011539621.1:p.Asp3609Gly
XM_011541320.1:c.10547A>G XP_011539622.1:p.Asp3516Gly
XM_011541321.1:c.10331A>G XP_011539623.1:p.Asp3444Gly
XM_011541318.2:c.10826A>G XP_011539620.1:p.Asp3609Gly
XM_017001120.1:c.10472A>G XP_016856609.1:p.Asp3491Gly
XM_017001121.1:c.10421A>G XP_016856610.1:p.Asp3474Gly
XM_017001122.1:c.10418A>G XP_016856611.1:p.Asp3473Gly
NM_005529.7:c.10277A>G MANE Select NP_005520.4:p.Asp3426Gly
NM_001291860.2:c.10280A>G NP_001278789.1:p.Asp3427Gly