Canonical Allele Identifier: CA670431

Gene: HSPG2

Linked Data

• dbSNP Id: rs537198949
• ExAC: 1:22167607 T / C
• gnomAD v3: 1-21841114-T-C
• gnomAD v4: 1-21841114-T-C
• MyVariant Identifiers: chr1:g.22167607T>C (hg19) ; chr1:g.21841114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841114T>C , CM000663.2:g.21841114T>C	GRCh38
NC_000001.10:g.22167607T>C , CM000663.1:g.22167607T>C	GRCh37
NC_000001.9:g.22040194T>C	NCBI36
NG_016740.1:g.101144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9500A>G MANE Select	ENSP00000363827.3:p.His3167Arg
ENST00000374695.7:c.9500A>G	ENSP00000363827.3:p.His3167Arg
NM_001291860.1:c.9503A>G	NP_001278789.1:p.His3168Arg
NM_005529.6:c.9500A>G	NP_005520.4:p.His3167Arg
XM_006710594.2:c.10046A>G	XP_006710657.1:p.His3349Arg
XM_006710595.2:c.9998A>G	XP_006710658.1:p.His3333Arg
XM_006710596.2:c.9977A>G	XP_006710659.1:p.His3326Arg
XM_006710597.2:c.9500A>G	XP_006710660.1:p.His3167Arg
XM_011541317.1:c.10049A>G	XP_011539619.1:p.His3350Arg
XM_011541318.1:c.10049A>G	XP_011539620.1:p.His3350Arg
XM_011541319.1:c.10049A>G	XP_011539621.1:p.His3350Arg
XM_011541320.1:c.9770A>G	XP_011539622.1:p.His3257Arg
XM_011541321.1:c.9554A>G	XP_011539623.1:p.His3185Arg
XM_011541318.2:c.10049A>G	XP_011539620.1:p.His3350Arg
XM_017001120.1:c.9695A>G	XP_016856609.1:p.His3232Arg
XM_017001121.1:c.9644A>G	XP_016856610.1:p.His3215Arg
XM_017001122.1:c.9641A>G	XP_016856611.1:p.His3214Arg
NM_005529.7:c.9500A>G MANE Select	NP_005520.4:p.His3167Arg
NM_001291860.2:c.9503A>G	NP_001278789.1:p.His3168Arg