Canonical Allele Identifier: CA670991

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21847760C>T , CM000663.2:g.21847760C>T	GRCh38
NC_000001.10:g.22174253C>T , CM000663.1:g.22174253C>T	GRCh37
NC_000001.9:g.22046840C>T	NCBI36
NG_016740.1:g.94498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.7954G>A MANE Select	NP_005520.4:p.Val2652Met
ENST00000374695.8:c.7954G>A MANE Select	ENSP00000363827.3:p.Val2652Met
NM_001291860.1:c.7957G>A	NP_001278789.1:p.Val2653Met
NM_001291860.2:c.7957G>A	NP_001278789.1:p.Val2653Met
NM_005529.6:c.7954G>A	NP_005520.4:p.Val2652Met
ENST00000374695.7:c.7954G>A	ENSP00000363827.3:p.Val2652Met
ENST00000453796.1:n.199G>A
XM_006710594.2:c.8500G>A	XP_006710657.1:p.Val2834Met
XM_006710595.2:c.8452G>A	XP_006710658.1:p.Val2818Met
XM_006710596.2:c.8431G>A	XP_006710659.1:p.Val2811Met
XM_006710597.2:c.7954G>A	XP_006710660.1:p.Val2652Met
XM_011541317.1:c.8503G>A	XP_011539619.1:p.Val2835Met
XM_011541318.1:c.8503G>A	XP_011539620.1:p.Val2835Met
XM_011541318.2:c.8503G>A	XP_011539620.1:p.Val2835Met
XM_011541319.1:c.8503G>A	XP_011539621.1:p.Val2835Met
XM_011541320.1:c.8224G>A	XP_011539622.1:p.Val2742Met
XM_011541321.1:c.8008G>A	XP_011539623.1:p.Val2670Met
XM_017001120.1:c.8149G>A	XP_016856609.1:p.Val2717Met
XM_017001121.1:c.8098G>A	XP_016856610.1:p.Val2700Met
XM_017001122.1:c.8095G>A	XP_016856611.1:p.Val2699Met