Canonical Allele Identifier: CA338958262

Gene: HSPG2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21872187T>C , CM000663.2:g.21872187T>C	GRCh38
NC_000001.10:g.22198680T>C , CM000663.1:g.22198680T>C	GRCh37
NC_000001.9:g.22071267T>C	NCBI36
NG_016740.1:g.70071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4220A>G MANE Select	ENSP00000363827.3:p.Lys1407Arg
ENST00000644714.1:c.191A>G	ENSP00000496473.1:p.Lys64Arg
ENST00000374695.7:c.4220A>G	ENSP00000363827.3:p.Lys1407Arg
NM_001291860.1:c.4223A>G	NP_001278789.1:p.Lys1408Arg
NM_005529.6:c.4220A>G	NP_005520.4:p.Lys1407Arg
XM_006710594.2:c.4271A>G	XP_006710657.1:p.Lys1424Arg
XM_006710595.2:c.4223A>G	XP_006710658.1:p.Lys1408Arg
XM_006710596.2:c.4274A>G	XP_006710659.1:p.Lys1425Arg
XM_006710597.2:c.4220A>G	XP_006710660.1:p.Lys1407Arg
XM_011541317.1:c.4274A>G	XP_011539619.1:p.Lys1425Arg
XM_011541318.1:c.4274A>G	XP_011539620.1:p.Lys1425Arg
XM_011541319.1:c.4274A>G	XP_011539621.1:p.Lys1425Arg
XM_011541320.1:c.4274A>G	XP_011539622.1:p.Lys1425Arg
XM_011541321.1:c.4274A>G	XP_011539623.1:p.Lys1425Arg
XM_011541322.1:c.4274A>G	XP_011539624.1:p.Lys1425Arg
XM_011541318.2:c.4274A>G	XP_011539620.1:p.Lys1425Arg
XM_017001120.1:c.4415A>G	XP_016856609.1:p.Lys1472Arg
XM_017001121.1:c.4364A>G	XP_016856610.1:p.Lys1455Arg
XM_017001122.1:c.4361A>G	XP_016856611.1:p.Lys1454Arg
NM_005529.7:c.4220A>G MANE Select	NP_005520.4:p.Lys1407Arg
NM_001291860.2:c.4223A>G	NP_001278789.1:p.Lys1408Arg