Canonical Allele Identifier: CA247892

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 198958
• ClinVar RCV Id: RCV000180423 ; RCV000270486 ; RCV000325486 ; RCV002277431 ; RCV001289451
• dbSNP Id: rs111866498
• ExAC: 1:22157795 G / A
• gnomAD v2: 1-22157795-G-A
• gnomAD v3: 1-21831302-G-A
• gnomAD v4: 1-21831302-G-A
• MyVariant Identifiers: chr1:g.22157795G>A (hg19) ; chr1:g.21831302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21831302G>A , CM000663.2:g.21831302G>A	GRCh38
NC_000001.10:g.22157795G>A , CM000663.1:g.22157795G>A	GRCh37
NC_000001.9:g.22030382G>A	NCBI36
NG_016740.1:g.110956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.11475C>T MANE Select	ENSP00000363827.3:p.Ile3825=
ENST00000374695.7:c.11475C>T	ENSP00000363827.3:p.Ile3825=
ENST00000635682.1:c.626C>T
NM_001291860.1:c.11478C>T	NP_001278789.1:p.Ile3826=
NM_005529.6:c.11475C>T	NP_005520.4:p.Ile3825=
XM_006710594.2:c.12039C>T	XP_006710657.1:p.Ile4013=
XM_006710595.2:c.11991C>T	XP_006710658.1:p.Ile3997=
XM_006710596.2:c.11970C>T	XP_006710659.1:p.Ile3990=
XM_006710597.2:c.11493C>T	XP_006710660.1:p.Ile3831=
XM_011541317.1:c.12042C>T	XP_011539619.1:p.Ile4014=
XM_011541318.1:c.12024C>T	XP_011539620.1:p.Ile4008=
XM_011541319.1:c.12042C>T	XP_011539621.1:p.Ile4014=
XM_011541320.1:c.11763C>T	XP_011539622.1:p.Ile3921=
XM_011541321.1:c.11547C>T	XP_011539623.1:p.Ile3849=
XM_011541318.2:c.12024C>T	XP_011539620.1:p.Ile4008=
XM_017001120.1:c.11670C>T	XP_016856609.1:p.Ile3890=
XM_017001121.1:c.11619C>T	XP_016856610.1:p.Ile3873=
XM_017001122.1:c.11616C>T	XP_016856611.1:p.Ile3872=
NM_005529.7:c.11475C>T MANE Select	NP_005520.4:p.Ile3825=
NM_001291860.2:c.11478C>T	NP_001278789.1:p.Ile3826=