Canonical Allele Identifier: CA338915606

Gene: HSPG2

Linked Data

• MyVariant Identifiers: chr1:g.22168747C>A (hg19) ; chr1:g.21842254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842254C>A , CM000663.2:g.21842254C>A	GRCh38
NC_000001.10:g.22168747C>A , CM000663.1:g.22168747C>A	GRCh37
NC_000001.9:g.22041334C>A	NCBI36
NG_016740.1:g.100004G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9037G>T MANE Select	ENSP00000363827.3:p.Glu3013Ter
ENST00000374695.7:c.9037G>T	ENSP00000363827.3:p.Glu3013Ter
NM_001291860.1:c.9040G>T	NP_001278789.1:p.Glu3014Ter
NM_005529.6:c.9037G>T	NP_005520.4:p.Glu3013Ter
XM_006710594.2:c.9583G>T	XP_006710657.1:p.Glu3195Ter
XM_006710595.2:c.9535G>T	XP_006710658.1:p.Glu3179Ter
XM_006710596.2:c.9514G>T	XP_006710659.1:p.Glu3172Ter
XM_006710597.2:c.9037G>T	XP_006710660.1:p.Glu3013Ter
XM_011541317.1:c.9586G>T	XP_011539619.1:p.Glu3196Ter
XM_011541318.1:c.9586G>T	XP_011539620.1:p.Glu3196Ter
XM_011541319.1:c.9586G>T	XP_011539621.1:p.Glu3196Ter
XM_011541320.1:c.9307G>T	XP_011539622.1:p.Glu3103Ter
XM_011541321.1:c.9091G>T	XP_011539623.1:p.Glu3031Ter
XM_011541318.2:c.9586G>T	XP_011539620.1:p.Glu3196Ter
XM_017001120.1:c.9232G>T	XP_016856609.1:p.Glu3078Ter
XM_017001121.1:c.9181G>T	XP_016856610.1:p.Glu3061Ter
XM_017001122.1:c.9178G>T	XP_016856611.1:p.Glu3060Ter
NM_005529.7:c.9037G>T MANE Select	NP_005520.4:p.Glu3013Ter
NM_001291860.2:c.9040G>T	NP_001278789.1:p.Glu3014Ter