Canonical Allele Identifier: CA999442850
Community Standard Title: NM_005529.7(HSPG2):c.10355+178A>G
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21836624T>C , CM000663.2:g.21836624T>C GRCh38
NC_000001.10:g.22163117T>C , CM000663.1:g.22163117T>C GRCh37
NC_000001.9:g.22035704T>C NCBI36
NG_016740.1:g.105634A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.10355+178A>G MANE Select NP_005520.4:n.10355+178A>G
ENST00000374695.8:c.10355+178A>G MANE Select ENSP00000363827.3:n.10355+178A>G
NM_001291860.1:c.10358+178A>G NP_001278789.1:n.10358+178A>G
NM_001291860.2:c.10358+178A>G NP_001278789.1:n.10358+178A>G
NM_005529.6:c.10355+178A>G NP_005520.4:n.10355+178A>G
ENST00000374676.4:c.183-987A>G
ENST00000374695.7:c.10355+178A>G ENSP00000363827.3:n.10355+178A>G
ENST00000471322.2:n.116+178A>G
XM_006710594.2:c.10901+178A>G XP_006710657.1:n.10901+178A>G
XM_006710595.2:c.10853+178A>G XP_006710658.1:n.10853+178A>G
XM_006710596.2:c.10832+178A>G XP_006710659.1:n.10832+178A>G
XM_006710597.2:c.10355+178A>G XP_006710660.1:n.10355+178A>G
XM_011541317.1:c.10904+178A>G XP_011539619.1:n.10904+178A>G
XM_011541318.1:c.10904+178A>G XP_011539620.1:n.10904+178A>G
XM_011541318.2:c.10904+178A>G XP_011539620.1:n.10904+178A>G
XM_011541319.1:c.10904+178A>G XP_011539621.1:n.10904+178A>G
XM_011541320.1:c.10625+178A>G XP_011539622.1:n.10625+178A>G
XM_011541321.1:c.10409+178A>G XP_011539623.1:n.10409+178A>G
XM_017001120.1:c.10550+178A>G XP_016856609.1:n.10550+178A>G
XM_017001121.1:c.10499+178A>G XP_016856610.1:n.10499+178A>G
XM_017001122.1:c.10496+178A>G XP_016856611.1:n.10496+178A>G