Canonical Allele Identifier: CA670641

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842833G>A , CM000663.2:g.21842833G>A	GRCh38
NC_000001.10:g.22169326G>A , CM000663.1:g.22169326G>A	GRCh37
NC_000001.9:g.22041913G>A	NCBI36
NG_016740.1:g.99425C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.8847C>T MANE Select	NP_005520.4:p.Pro2949=
ENST00000374695.8:c.8847C>T MANE Select	ENSP00000363827.3:p.Pro2949=
NM_001291860.1:c.8850C>T	NP_001278789.1:p.Pro2950=
NM_001291860.2:c.8850C>T	NP_001278789.1:p.Pro2950=
NM_005529.6:c.8847C>T	NP_005520.4:p.Pro2949=
ENST00000374695.7:c.8847C>T	ENSP00000363827.3:p.Pro2949=
XM_006710594.2:c.9393C>T	XP_006710657.1:p.Pro3131=
XM_006710595.2:c.9345C>T	XP_006710658.1:p.Pro3115=
XM_006710596.2:c.9324C>T	XP_006710659.1:p.Pro3108=
XM_006710597.2:c.8847C>T	XP_006710660.1:p.Pro2949=
XM_011541317.1:c.9396C>T	XP_011539619.1:p.Pro3132=
XM_011541318.1:c.9396C>T	XP_011539620.1:p.Pro3132=
XM_011541318.2:c.9396C>T	XP_011539620.1:p.Pro3132=
XM_011541319.1:c.9396C>T	XP_011539621.1:p.Pro3132=
XM_011541320.1:c.9117C>T	XP_011539622.1:p.Pro3039=
XM_011541321.1:c.8901C>T	XP_011539623.1:p.Pro2967=
XM_017001120.1:c.9042C>T	XP_016856609.1:p.Pro3014=
XM_017001121.1:c.8991C>T	XP_016856610.1:p.Pro2997=
XM_017001122.1:c.8988C>T	XP_016856611.1:p.Pro2996=