Canonical Allele Identifier: CA670244

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21838930G>C , CM000663.2:g.21838930G>C	GRCh38
NC_000001.10:g.22165423G>C , CM000663.1:g.22165423G>C	GRCh37
NC_000001.9:g.22038010G>C	NCBI36
NG_016740.1:g.103328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10045C>G MANE Select	ENSP00000363827.3:p.Leu3349Val
ENST00000374676.4:c.77C>G
ENST00000374695.7:c.10045C>G	ENSP00000363827.3:p.Leu3349Val
NM_001291860.1:c.10048C>G	NP_001278789.1:p.Leu3350Val
NM_005529.6:c.10045C>G	NP_005520.4:p.Leu3349Val
XM_006710594.2:c.10591C>G	XP_006710657.1:p.Leu3531Val
XM_006710595.2:c.10543C>G	XP_006710658.1:p.Leu3515Val
XM_006710596.2:c.10522C>G	XP_006710659.1:p.Leu3508Val
XM_006710597.2:c.10045C>G	XP_006710660.1:p.Leu3349Val
XM_011541317.1:c.10594C>G	XP_011539619.1:p.Leu3532Val
XM_011541318.1:c.10594C>G	XP_011539620.1:p.Leu3532Val
XM_011541319.1:c.10594C>G	XP_011539621.1:p.Leu3532Val
XM_011541320.1:c.10315C>G	XP_011539622.1:p.Leu3439Val
XM_011541321.1:c.10099C>G	XP_011539623.1:p.Leu3367Val
XM_011541318.2:c.10594C>G	XP_011539620.1:p.Leu3532Val
XM_017001120.1:c.10240C>G	XP_016856609.1:p.Leu3414Val
XM_017001121.1:c.10189C>G	XP_016856610.1:p.Leu3397Val
XM_017001122.1:c.10186C>G	XP_016856611.1:p.Leu3396Val
NM_005529.7:c.10045C>G MANE Select	NP_005520.4:p.Leu3349Val
NM_001291860.2:c.10048C>G	NP_001278789.1:p.Leu3350Val