Canonical Allele Identifier: CA338914005

Gene: HSPG2

Linked Data

• dbSNP Id: rs1324332082
• gnomAD v2: 1-22167614-C-T
• gnomAD v4: 1-21841121-C-T
• MyVariant Identifiers: chr1:g.22167614C>T (hg19) ; chr1:g.21841121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841121C>T , CM000663.2:g.21841121C>T	GRCh38
NC_000001.10:g.22167614C>T , CM000663.1:g.22167614C>T	GRCh37
NC_000001.9:g.22040201C>T	NCBI36
NG_016740.1:g.101137G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9493G>A MANE Select	ENSP00000363827.3:p.Asp3165Asn
ENST00000374695.7:c.9493G>A	ENSP00000363827.3:p.Asp3165Asn
NM_001291860.1:c.9496G>A	NP_001278789.1:p.Asp3166Asn
NM_005529.6:c.9493G>A	NP_005520.4:p.Asp3165Asn
XM_006710594.2:c.10039G>A	XP_006710657.1:p.Asp3347Asn
XM_006710595.2:c.9991G>A	XP_006710658.1:p.Asp3331Asn
XM_006710596.2:c.9970G>A	XP_006710659.1:p.Asp3324Asn
XM_006710597.2:c.9493G>A	XP_006710660.1:p.Asp3165Asn
XM_011541317.1:c.10042G>A	XP_011539619.1:p.Asp3348Asn
XM_011541318.1:c.10042G>A	XP_011539620.1:p.Asp3348Asn
XM_011541319.1:c.10042G>A	XP_011539621.1:p.Asp3348Asn
XM_011541320.1:c.9763G>A	XP_011539622.1:p.Asp3255Asn
XM_011541321.1:c.9547G>A	XP_011539623.1:p.Asp3183Asn
XM_011541318.2:c.10042G>A	XP_011539620.1:p.Asp3348Asn
XM_017001120.1:c.9688G>A	XP_016856609.1:p.Asp3230Asn
XM_017001121.1:c.9637G>A	XP_016856610.1:p.Asp3213Asn
XM_017001122.1:c.9634G>A	XP_016856611.1:p.Asp3212Asn
NM_005529.7:c.9493G>A MANE Select	NP_005520.4:p.Asp3165Asn
NM_001291860.2:c.9496G>A	NP_001278789.1:p.Asp3166Asn