Canonical Allele Identifier: CA245018

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 197080
• ClinVar RCV Id: RCV000178005 ; RCV000191093 ; RCV001099320 ; RCV000991336 ; RCV004537456
• dbSNP Id: rs142433309
• ExAC: 1:22188289 G / A
• gnomAD v2: 1-22188289-G-A
• gnomAD v3: 1-21861796-G-A
• gnomAD v4: 1-21861796-G-A
• MyVariant Identifiers: chr1:g.22188289G>A (hg19) ; chr1:g.21861796G>A (hg38)
• PubMed: PMID:24088041 ; PMID:25504735 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21861796G>A , CM000663.2:g.21861796G>A	GRCh38
NC_000001.10:g.22188289G>A , CM000663.1:g.22188289G>A	GRCh37
NC_000001.9:g.22060876G>A	NCBI36
NG_016740.1:g.80462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4916C>T MANE Select	ENSP00000363827.3:p.Thr1639Met
ENST00000374695.7:c.4916C>T	ENSP00000363827.3:p.Thr1639Met
NM_001291860.1:c.4919C>T	NP_001278789.1:p.Thr1640Met
NM_005529.6:c.4916C>T	NP_005520.4:p.Thr1639Met
XM_006710594.2:c.5462C>T	XP_006710657.1:p.Thr1821Met
XM_006710595.2:c.5414C>T	XP_006710658.1:p.Thr1805Met
XM_006710596.2:c.5393C>T	XP_006710659.1:p.Thr1798Met
XM_006710597.2:c.4916C>T	XP_006710660.1:p.Thr1639Met
XM_011541317.1:c.5465C>T	XP_011539619.1:p.Thr1822Met
XM_011541318.1:c.5465C>T	XP_011539620.1:p.Thr1822Met
XM_011541319.1:c.5465C>T	XP_011539621.1:p.Thr1822Met
XM_011541320.1:c.5465C>T	XP_011539622.1:p.Thr1822Met
XM_011541321.1:c.4970C>T	XP_011539623.1:p.Thr1657Met
XM_011541322.1:c.5465C>T	XP_011539624.1:p.Thr1822Met
XM_011541318.2:c.5465C>T	XP_011539620.1:p.Thr1822Met
XM_017001120.1:c.5111C>T	XP_016856609.1:p.Thr1704Met
XM_017001121.1:c.5060C>T	XP_016856610.1:p.Thr1687Met
XM_017001122.1:c.5057C>T	XP_016856611.1:p.Thr1686Met
NM_005529.7:c.4916C>T MANE Select	NP_005520.4:p.Thr1639Met
NM_001291860.2:c.4919C>T	NP_001278789.1:p.Thr1640Met