Canonical Allele Identifier: CA338914004

Gene: HSPG2

Linked Data

• MyVariant Identifiers: chr1:g.22167614C>A (hg19) ; chr1:g.21841121C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9493G>T MANE Select	ENSP00000363827.3:p.Asp3165Tyr
ENST00000374695.7:c.9493G>T	ENSP00000363827.3:p.Asp3165Tyr
NM_001291860.1:c.9496G>T	NP_001278789.1:p.Asp3166Tyr
NM_005529.6:c.9493G>T	NP_005520.4:p.Asp3165Tyr
XM_006710594.2:c.10039G>T	XP_006710657.1:p.Asp3347Tyr
XM_006710595.2:c.9991G>T	XP_006710658.1:p.Asp3331Tyr
XM_006710596.2:c.9970G>T	XP_006710659.1:p.Asp3324Tyr
XM_006710597.2:c.9493G>T	XP_006710660.1:p.Asp3165Tyr
XM_011541317.1:c.10042G>T	XP_011539619.1:p.Asp3348Tyr
XM_011541318.1:c.10042G>T	XP_011539620.1:p.Asp3348Tyr
XM_011541319.1:c.10042G>T	XP_011539621.1:p.Asp3348Tyr
XM_011541320.1:c.9763G>T	XP_011539622.1:p.Asp3255Tyr
XM_011541321.1:c.9547G>T	XP_011539623.1:p.Asp3183Tyr
XM_011541318.2:c.10042G>T	XP_011539620.1:p.Asp3348Tyr
XM_017001120.1:c.9688G>T	XP_016856609.1:p.Asp3230Tyr
XM_017001121.1:c.9637G>T	XP_016856610.1:p.Asp3213Tyr
XM_017001122.1:c.9634G>T	XP_016856611.1:p.Asp3212Tyr
NM_005529.7:c.9493G>T MANE Select	NP_005520.4:p.Asp3165Tyr
NM_001291860.2:c.9496G>T	NP_001278789.1:p.Asp3166Tyr