Canonical Allele Identifier: CA671511

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 284845
• ClinVar RCV Id: RCV000259556 ; RCV000354393 ; RCV000387513 ; RCV004535334 ; RCV002518950
• dbSNP Id: rs143109401
• ExAC: 1:22179462 C / T
• gnomAD v2: 1-22179462-C-T
• gnomAD v3: 1-21852969-C-T
• gnomAD v4: 1-21852969-C-T
• COSMIC: COSM3689364
• MyVariant Identifiers: chr1:g.22179462C>T (hg19) ; chr1:g.21852969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21852969C>T , CM000663.2:g.21852969C>T	GRCh38
NC_000001.10:g.22179462C>T , CM000663.1:g.22179462C>T	GRCh37
NC_000001.9:g.22052049C>T	NCBI36
NG_016740.1:g.89289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.6541G>A MANE Select	ENSP00000363827.3:p.Ala2181Thr
ENST00000374695.7:c.6541G>A	ENSP00000363827.3:p.Ala2181Thr
ENST00000493940.2:n.299G>A
NM_001291860.1:c.6544G>A	NP_001278789.1:p.Ala2182Thr
NM_005529.6:c.6541G>A	NP_005520.4:p.Ala2181Thr
XM_006710594.2:c.7087G>A	XP_006710657.1:p.Ala2363Thr
XM_006710595.2:c.7039G>A	XP_006710658.1:p.Ala2347Thr
XM_006710596.2:c.7018G>A	XP_006710659.1:p.Ala2340Thr
XM_006710597.2:c.6541G>A	XP_006710660.1:p.Ala2181Thr
XM_011541317.1:c.7090G>A	XP_011539619.1:p.Ala2364Thr
XM_011541318.1:c.7090G>A	XP_011539620.1:p.Ala2364Thr
XM_011541319.1:c.7090G>A	XP_011539621.1:p.Ala2364Thr
XM_011541320.1:c.7090G>A	XP_011539622.1:p.Ala2364Thr
XM_011541321.1:c.6595G>A	XP_011539623.1:p.Ala2199Thr
XM_011541322.1:c.7090G>A	XP_011539624.1:p.Ala2364Thr
XM_011541318.2:c.7090G>A	XP_011539620.1:p.Ala2364Thr
XM_017001120.1:c.6736G>A	XP_016856609.1:p.Ala2246Thr
XM_017001121.1:c.6685G>A	XP_016856610.1:p.Ala2229Thr
XM_017001122.1:c.6682G>A	XP_016856611.1:p.Ala2228Thr
NM_005529.7:c.6541G>A MANE Select	NP_005520.4:p.Ala2181Thr
NM_001291860.2:c.6544G>A	NP_001278789.1:p.Ala2182Thr