Canonical Allele Identifier: CA338913992

Gene: HSPG2

Linked Data

• dbSNP Id: rs1162003900
• gnomAD v2: 1-22167609-G-T
• gnomAD v4: 1-21841116-G-T
• MyVariant Identifiers: chr1:g.22167609G>T (hg19) ; chr1:g.21841116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841116G>T , CM000663.2:g.21841116G>T	GRCh38
NC_000001.10:g.22167609G>T , CM000663.1:g.22167609G>T	GRCh37
NC_000001.9:g.22040196G>T	NCBI36
NG_016740.1:g.101142C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9498C>A MANE Select	ENSP00000363827.3:p.Ser3166Arg
ENST00000374695.7:c.9498C>A	ENSP00000363827.3:p.Ser3166Arg
NM_001291860.1:c.9501C>A	NP_001278789.1:p.Ser3167Arg
NM_005529.6:c.9498C>A	NP_005520.4:p.Ser3166Arg
XM_006710594.2:c.10044C>A	XP_006710657.1:p.Ser3348Arg
XM_006710595.2:c.9996C>A	XP_006710658.1:p.Ser3332Arg
XM_006710596.2:c.9975C>A	XP_006710659.1:p.Ser3325Arg
XM_006710597.2:c.9498C>A	XP_006710660.1:p.Ser3166Arg
XM_011541317.1:c.10047C>A	XP_011539619.1:p.Ser3349Arg
XM_011541318.1:c.10047C>A	XP_011539620.1:p.Ser3349Arg
XM_011541319.1:c.10047C>A	XP_011539621.1:p.Ser3349Arg
XM_011541320.1:c.9768C>A	XP_011539622.1:p.Ser3256Arg
XM_011541321.1:c.9552C>A	XP_011539623.1:p.Ser3184Arg
XM_011541318.2:c.10047C>A	XP_011539620.1:p.Ser3349Arg
XM_017001120.1:c.9693C>A	XP_016856609.1:p.Ser3231Arg
XM_017001121.1:c.9642C>A	XP_016856610.1:p.Ser3214Arg
XM_017001122.1:c.9639C>A	XP_016856611.1:p.Ser3213Arg
NM_005529.7:c.9498C>A MANE Select	NP_005520.4:p.Ser3166Arg
NM_001291860.2:c.9501C>A	NP_001278789.1:p.Ser3167Arg