Canonical Allele Identifier: CA338913841

Gene: HSPG2

Linked Data

• MyVariant Identifiers: chr1:g.22166460C>A (hg19) ; chr1:g.21839967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839967C>A , CM000663.2:g.21839967C>A	GRCh38
NC_000001.10:g.22166460C>A , CM000663.1:g.22166460C>A	GRCh37
NC_000001.9:g.22039047C>A	NCBI36
NG_016740.1:g.102291G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9564G>T MANE Select	ENSP00000363827.3:p.Gln3188His
ENST00000374695.7:c.9564G>T	ENSP00000363827.3:p.Gln3188His
NM_001291860.1:c.9567G>T	NP_001278789.1:p.Gln3189His
NM_005529.6:c.9564G>T	NP_005520.4:p.Gln3188His
XM_006710594.2:c.10110G>T	XP_006710657.1:p.Gln3370His
XM_006710595.2:c.10062G>T	XP_006710658.1:p.Gln3354His
XM_006710596.2:c.10041G>T	XP_006710659.1:p.Gln3347His
XM_006710597.2:c.9564G>T	XP_006710660.1:p.Gln3188His
XM_011541317.1:c.10113G>T	XP_011539619.1:p.Gln3371His
XM_011541318.1:c.10113G>T	XP_011539620.1:p.Gln3371His
XM_011541319.1:c.10113G>T	XP_011539621.1:p.Gln3371His
XM_011541320.1:c.9834G>T	XP_011539622.1:p.Gln3278His
XM_011541321.1:c.9618G>T	XP_011539623.1:p.Gln3206His
XM_011541318.2:c.10113G>T	XP_011539620.1:p.Gln3371His
XM_017001120.1:c.9759G>T	XP_016856609.1:p.Gln3253His
XM_017001121.1:c.9708G>T	XP_016856610.1:p.Gln3236His
XM_017001122.1:c.9705G>T	XP_016856611.1:p.Gln3235His
NM_005529.7:c.9564G>T MANE Select	NP_005520.4:p.Gln3188His
NM_001291860.2:c.9567G>T	NP_001278789.1:p.Gln3189His