Canonical Allele Identifier: CA670800
Community Standard Title: NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21846208C>T , CM000663.2:g.21846208C>T GRCh38
NC_000001.10:g.22172701C>T , CM000663.1:g.22172701C>T GRCh37
NC_000001.9:g.22045288C>T NCBI36
NG_016740.1:g.96050G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.8364G>A MANE Select NP_005520.4:p.Ser2788=
ENST00000374695.8:c.8364G>A MANE Select ENSP00000363827.3:p.Ser2788=
NM_001291860.1:c.8367G>A NP_001278789.1:p.Ser2789=
NM_001291860.2:c.8367G>A NP_001278789.1:p.Ser2789=
NM_005529.6:c.8364G>A NP_005520.4:p.Ser2788=
ENST00000374695.7:c.8364G>A ENSP00000363827.3:p.Ser2788=
ENST00000453796.1:n.609G>A
XM_006710594.2:c.8910G>A XP_006710657.1:p.Ser2970=
XM_006710595.2:c.8862G>A XP_006710658.1:p.Ser2954=
XM_006710596.2:c.8841G>A XP_006710659.1:p.Ser2947=
XM_006710597.2:c.8364G>A XP_006710660.1:p.Ser2788=
XM_011541317.1:c.8913G>A XP_011539619.1:p.Ser2971=
XM_011541318.1:c.8913G>A XP_011539620.1:p.Ser2971=
XM_011541318.2:c.8913G>A XP_011539620.1:p.Ser2971=
XM_011541319.1:c.8913G>A XP_011539621.1:p.Ser2971=
XM_011541320.1:c.8634G>A XP_011539622.1:p.Ser2878=
XM_011541321.1:c.8418G>A XP_011539623.1:p.Ser2806=
XM_017001120.1:c.8559G>A XP_016856609.1:p.Ser2853=
XM_017001121.1:c.8508G>A XP_016856610.1:p.Ser2836=
XM_017001122.1:c.8505G>A XP_016856611.1:p.Ser2835=