Canonical Allele Identifier: CA338915623

Gene: HSPG2

Linked Data

• MyVariant Identifiers: chr1:g.22168752G>C (hg19) ; chr1:g.21842259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842259G>C , CM000663.2:g.21842259G>C	GRCh38
NC_000001.10:g.22168752G>C , CM000663.1:g.22168752G>C	GRCh37
NC_000001.9:g.22041339G>C	NCBI36
NG_016740.1:g.99999C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9032C>G MANE Select	ENSP00000363827.3:p.Pro3011Arg
ENST00000374695.7:c.9032C>G	ENSP00000363827.3:p.Pro3011Arg
NM_001291860.1:c.9035C>G	NP_001278789.1:p.Pro3012Arg
NM_005529.6:c.9032C>G	NP_005520.4:p.Pro3011Arg
XM_006710594.2:c.9578C>G	XP_006710657.1:p.Pro3193Arg
XM_006710595.2:c.9530C>G	XP_006710658.1:p.Pro3177Arg
XM_006710596.2:c.9509C>G	XP_006710659.1:p.Pro3170Arg
XM_006710597.2:c.9032C>G	XP_006710660.1:p.Pro3011Arg
XM_011541317.1:c.9581C>G	XP_011539619.1:p.Pro3194Arg
XM_011541318.1:c.9581C>G	XP_011539620.1:p.Pro3194Arg
XM_011541319.1:c.9581C>G	XP_011539621.1:p.Pro3194Arg
XM_011541320.1:c.9302C>G	XP_011539622.1:p.Pro3101Arg
XM_011541321.1:c.9086C>G	XP_011539623.1:p.Pro3029Arg
XM_011541318.2:c.9581C>G	XP_011539620.1:p.Pro3194Arg
XM_017001120.1:c.9227C>G	XP_016856609.1:p.Pro3076Arg
XM_017001121.1:c.9176C>G	XP_016856610.1:p.Pro3059Arg
XM_017001122.1:c.9173C>G	XP_016856611.1:p.Pro3058Arg
NM_005529.7:c.9032C>G MANE Select	NP_005520.4:p.Pro3011Arg
NM_001291860.2:c.9035C>G	NP_001278789.1:p.Pro3012Arg