Canonical Allele Identifier: CA669942

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295725
• ClinVar RCV Id: RCV000269036 ; RCV000363706 ; RCV000765074 ; RCV000948533 ; RCV000507550 ; RCV004537646
• dbSNP Id: rs149159881
• ExAC: 1:22159784 G / A
• gnomAD v2: 1-22159784-G-A
• gnomAD v3: 1-21833291-G-A
• gnomAD v4: 1-21833291-G-A
• MyVariant Identifiers: chr1:g.22159784G>A (hg19) ; chr1:g.21833291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21833291G>A , CM000663.2:g.21833291G>A	GRCh38
NC_000001.10:g.22159784G>A , CM000663.1:g.22159784G>A	GRCh37
NC_000001.9:g.22032371G>A	NCBI36
NG_016740.1:g.108967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.11072C>T MANE Select	ENSP00000363827.3:p.Thr3691Ile
ENST00000374695.7:c.11072C>T	ENSP00000363827.3:p.Thr3691Ile
ENST00000471322.2:n.1427C>T
ENST00000635682.1:c.205C>T
NM_001291860.1:c.11075C>T	NP_001278789.1:p.Thr3692Ile
NM_005529.6:c.11072C>T	NP_005520.4:p.Thr3691Ile
XM_006710594.2:c.11618C>T	XP_006710657.1:p.Thr3873Ile
XM_006710595.2:c.11570C>T	XP_006710658.1:p.Thr3857Ile
XM_006710596.2:c.11549C>T	XP_006710659.1:p.Thr3850Ile
XM_006710597.2:c.11072C>T	XP_006710660.1:p.Thr3691Ile
XM_011541317.1:c.11621C>T	XP_011539619.1:p.Thr3874Ile
XM_011541318.1:c.11621C>T	XP_011539620.1:p.Thr3874Ile
XM_011541319.1:c.11621C>T	XP_011539621.1:p.Thr3874Ile
XM_011541320.1:c.11342C>T	XP_011539622.1:p.Thr3781Ile
XM_011541321.1:c.11126C>T	XP_011539623.1:p.Thr3709Ile
XM_011541318.2:c.11621C>T	XP_011539620.1:p.Thr3874Ile
XM_017001120.1:c.11267C>T	XP_016856609.1:p.Thr3756Ile
XM_017001121.1:c.11216C>T	XP_016856610.1:p.Thr3739Ile
XM_017001122.1:c.11213C>T	XP_016856611.1:p.Thr3738Ile
NM_005529.7:c.11072C>T MANE Select	NP_005520.4:p.Thr3691Ile
NM_001291860.2:c.11075C>T	NP_001278789.1:p.Thr3692Ile