Canonical Allele Identifier: CA670199

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 289408
• ClinVar RCV Id: RCV000369617 ; RCV000726320 ; RCV001096488 ; RCV001096489 ; RCV002522005
• dbSNP Id: rs200225298
• ExAC: 1:22163463 G / A
• gnomAD v2: 1-22163463-G-A
• gnomAD v3: 1-21836970-G-A
• gnomAD v4: 1-21836970-G-A
• MyVariant Identifiers: chr1:g.22163463G>A (hg19) ; chr1:g.21836970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21836970G>A , CM000663.2:g.21836970G>A	GRCh38
NC_000001.10:g.22163463G>A , CM000663.1:g.22163463G>A	GRCh37
NC_000001.9:g.22036050G>A	NCBI36
NG_016740.1:g.105288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10187C>T MANE Select	ENSP00000363827.3:p.Ala3396Val
ENST00000374676.4:c.183-1333C>T
ENST00000374695.7:c.10187C>T	ENSP00000363827.3:p.Ala3396Val
NM_001291860.1:c.10190C>T	NP_001278789.1:p.Ala3397Val
NM_005529.6:c.10187C>T	NP_005520.4:p.Ala3396Val
XM_006710594.2:c.10733C>T	XP_006710657.1:p.Ala3578Val
XM_006710595.2:c.10685C>T	XP_006710658.1:p.Ala3562Val
XM_006710596.2:c.10664C>T	XP_006710659.1:p.Ala3555Val
XM_006710597.2:c.10187C>T	XP_006710660.1:p.Ala3396Val
XM_011541317.1:c.10736C>T	XP_011539619.1:p.Ala3579Val
XM_011541318.1:c.10736C>T	XP_011539620.1:p.Ala3579Val
XM_011541319.1:c.10736C>T	XP_011539621.1:p.Ala3579Val
XM_011541320.1:c.10457C>T	XP_011539622.1:p.Ala3486Val
XM_011541321.1:c.10241C>T	XP_011539623.1:p.Ala3414Val
XM_011541318.2:c.10736C>T	XP_011539620.1:p.Ala3579Val
XM_017001120.1:c.10382C>T	XP_016856609.1:p.Ala3461Val
XM_017001121.1:c.10331C>T	XP_016856610.1:p.Ala3444Val
XM_017001122.1:c.10328C>T	XP_016856611.1:p.Ala3443Val
NM_005529.7:c.10187C>T MANE Select	NP_005520.4:p.Ala3396Val
NM_001291860.2:c.10190C>T	NP_001278789.1:p.Ala3397Val