Canonical Allele Identifier: CA670729

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 284843
• ClinVar RCV Id: RCV000352198 ; RCV000296341 ; RCV000401011 ; RCV004535332 ; RCV004021165
• dbSNP Id: rs139838884
• ExAC: 1:22170652 C / G
• gnomAD v2: 1-22170652-C-G
• gnomAD v3: 1-21844159-C-G
• gnomAD v4: 1-21844159-C-G
• MyVariant Identifiers: chr1:g.22170652C>G (hg19) ; chr1:g.21844159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21844159C>G , CM000663.2:g.21844159C>G	GRCh38
NC_000001.10:g.22170652C>G , CM000663.1:g.22170652C>G	GRCh37
NC_000001.9:g.22043239C>G	NCBI36
NG_016740.1:g.98099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.8605G>C MANE Select	ENSP00000363827.3:p.Ala2869Pro
ENST00000374695.7:c.8605G>C	ENSP00000363827.3:p.Ala2869Pro
NM_001291860.1:c.8608G>C	NP_001278789.1:p.Ala2870Pro
NM_005529.6:c.8605G>C	NP_005520.4:p.Ala2869Pro
XM_006710594.2:c.9151G>C	XP_006710657.1:p.Ala3051Pro
XM_006710595.2:c.9103G>C	XP_006710658.1:p.Ala3035Pro
XM_006710596.2:c.9082G>C	XP_006710659.1:p.Ala3028Pro
XM_006710597.2:c.8605G>C	XP_006710660.1:p.Ala2869Pro
XM_011541317.1:c.9154G>C	XP_011539619.1:p.Ala3052Pro
XM_011541318.1:c.9154G>C	XP_011539620.1:p.Ala3052Pro
XM_011541319.1:c.9154G>C	XP_011539621.1:p.Ala3052Pro
XM_011541320.1:c.8875G>C	XP_011539622.1:p.Ala2959Pro
XM_011541321.1:c.8659G>C	XP_011539623.1:p.Ala2887Pro
XM_011541318.2:c.9154G>C	XP_011539620.1:p.Ala3052Pro
XM_017001120.1:c.8800G>C	XP_016856609.1:p.Ala2934Pro
XM_017001121.1:c.8749G>C	XP_016856610.1:p.Ala2917Pro
XM_017001122.1:c.8746G>C	XP_016856611.1:p.Ala2916Pro
NM_005529.7:c.8605G>C MANE Select	NP_005520.4:p.Ala2869Pro
NM_001291860.2:c.8608G>C	NP_001278789.1:p.Ala2870Pro