Canonical Allele Identifier: CA1139921405
Community Standard Title: NM_005529.7(HSPG2):c.8983A= (p.Ser2995=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21842308T= , CM000663.2:g.21842308T= GRCh38
NC_000001.10:g.22168801T= , CM000663.1:g.22168801T= GRCh37
NC_000001.9:g.22041388T= NCBI36
NG_016740.1:g.99950A=

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.8983A= MANE Select NP_005520.4:p.Ser2995=
ENST00000374695.8:c.8983A= MANE Select ENSP00000363827.3:p.Ser2995=
NM_001291860.1:c.8986A= NP_001278789.1:p.Ser2996=
NM_001291860.2:c.8986A= NP_001278789.1:p.Ser2996=
NM_005529.6:c.8983A= NP_005520.4:p.Ser2995=
ENST00000374695.7:c.8983A= ENSP00000363827.3:p.Ser2995=
XM_006710594.2:c.9529A= XP_006710657.1:p.Ser3177=
XM_006710595.2:c.9481A= XP_006710658.1:p.Ser3161=
XM_006710596.2:c.9460A= XP_006710659.1:p.Ser3154=
XM_006710597.2:c.8983A= XP_006710660.1:p.Ser2995=
XM_011541317.1:c.9532A= XP_011539619.1:p.Ser3178=
XM_011541318.1:c.9532A= XP_011539620.1:p.Ser3178=
XM_011541318.2:c.9532A= XP_011539620.1:p.Ser3178=
XM_011541319.1:c.9532A= XP_011539621.1:p.Ser3178=
XM_011541320.1:c.9253A= XP_011539622.1:p.Ser3085=
XM_011541321.1:c.9037A= XP_011539623.1:p.Ser3013=
XM_017001120.1:c.9178A= XP_016856609.1:p.Ser3060=
XM_017001121.1:c.9127A= XP_016856610.1:p.Ser3043=
XM_017001122.1:c.9124A= XP_016856611.1:p.Ser3042=