Canonical Allele Identifier: CA16617066
Gene: HSPG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422084
ClinVar RCV Id: RCV000483256
dbSNP Id: rs1064795546
gnomAD v2: 1-22207862-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21881369C>T , CM000663.2:g.21881369C>T GRCh38
NC_000001.10:g.22207862C>T , CM000663.1:g.22207862C>T GRCh37
NC_000001.9:g.22080449C>T NCBI36
NG_016740.1:g.60889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374695.8:c.1788G>A MANE Select ENSP00000363827.3:p.Trp596Ter
ENST00000374695.7:c.1788G>A ENSP00000363827.3:p.Trp596Ter
NM_001291860.1:c.1791G>A NP_001278789.1:p.Trp597Ter
NM_005529.6:c.1788G>A NP_005520.4:p.Trp596Ter
XM_006710594.2:c.1839G>A XP_006710657.1:p.Trp613Ter
XM_006710595.2:c.1791G>A XP_006710658.1:p.Trp597Ter
XM_006710596.2:c.1842G>A XP_006710659.1:p.Trp614Ter
XM_006710597.2:c.1788G>A XP_006710660.1:p.Trp596Ter
XM_011541317.1:c.1842G>A XP_011539619.1:p.Trp614Ter
XM_011541318.1:c.1842G>A XP_011539620.1:p.Trp614Ter
XM_011541319.1:c.1842G>A XP_011539621.1:p.Trp614Ter
XM_011541320.1:c.1842G>A XP_011539622.1:p.Trp614Ter
XM_011541321.1:c.1842G>A XP_011539623.1:p.Trp614Ter
XM_011541322.1:c.1842G>A XP_011539624.1:p.Trp614Ter
XM_011541318.2:c.1842G>A XP_011539620.1:p.Trp614Ter
XM_017001120.1:c.1983G>A XP_016856609.1:p.Trp661Ter
XM_017001121.1:c.1932G>A XP_016856610.1:p.Trp644Ter
XM_017001122.1:c.1929G>A XP_016856611.1:p.Trp643Ter
NM_005529.7:c.1788G>A MANE Select NP_005520.4:p.Trp596Ter
NM_001291860.2:c.1791G>A NP_001278789.1:p.Trp597Ter