Canonical Allele Identifier: CA338912144

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839017A>G , CM000663.2:g.21839017A>G	GRCh38
NC_000001.10:g.22165510A>G , CM000663.1:g.22165510A>G	GRCh37
NC_000001.9:g.22038097A>G	NCBI36
NG_016740.1:g.103241T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.9958T>C MANE Select	NP_005520.4:p.Cys3320Arg
ENST00000374695.8:c.9958T>C MANE Select	ENSP00000363827.3:p.Cys3320Arg
NM_001291860.1:c.9961T>C	NP_001278789.1:p.Cys3321Arg
NM_001291860.2:c.9961T>C	NP_001278789.1:p.Cys3321Arg
NM_005529.6:c.9958T>C	NP_005520.4:p.Cys3320Arg
ENST00000374695.7:c.9958T>C	ENSP00000363827.3:p.Cys3320Arg
XM_006710594.2:c.10504T>C	XP_006710657.1:p.Cys3502Arg
XM_006710595.2:c.10456T>C	XP_006710658.1:p.Cys3486Arg
XM_006710596.2:c.10435T>C	XP_006710659.1:p.Cys3479Arg
XM_006710597.2:c.9958T>C	XP_006710660.1:p.Cys3320Arg
XM_011541317.1:c.10507T>C	XP_011539619.1:p.Cys3503Arg
XM_011541318.1:c.10507T>C	XP_011539620.1:p.Cys3503Arg
XM_011541318.2:c.10507T>C	XP_011539620.1:p.Cys3503Arg
XM_011541319.1:c.10507T>C	XP_011539621.1:p.Cys3503Arg
XM_011541320.1:c.10228T>C	XP_011539622.1:p.Cys3410Arg
XM_011541321.1:c.10012T>C	XP_011539623.1:p.Cys3338Arg
XM_017001120.1:c.10153T>C	XP_016856609.1:p.Cys3385Arg
XM_017001121.1:c.10102T>C	XP_016856610.1:p.Cys3368Arg
XM_017001122.1:c.10099T>C	XP_016856611.1:p.Cys3367Arg