Canonical Allele Identifier: CA10610030

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295859
• ClinVar RCV Id: RCV000306404 ; RCV000344965 ; RCV000885735
• dbSNP Id: rs886046036
• gnomAD v4: 1-21874492-G-A
• MyVariant Identifiers: chr1:g.22200985G>A (hg19) ; chr1:g.21874492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21874492G>A , CM000663.2:g.21874492G>A	GRCh38
NC_000001.10:g.22200985G>A , CM000663.1:g.22200985G>A	GRCh37
NC_000001.9:g.22073572G>A	NCBI36
NG_016740.1:g.67766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.3570C>T MANE Select	ENSP00000363827.3:p.Cys1190=
ENST00000374695.7:c.3570C>T	ENSP00000363827.3:p.Cys1190=
ENST00000427897.1:c.133C>T
ENST00000498495.1:n.474C>T
NM_001291860.1:c.3573C>T	NP_001278789.1:p.Cys1191=
NM_005529.6:c.3570C>T	NP_005520.4:p.Cys1190=
XM_006710594.2:c.3621C>T	XP_006710657.1:p.Cys1207=
XM_006710595.2:c.3573C>T	XP_006710658.1:p.Cys1191=
XM_006710596.2:c.3624C>T	XP_006710659.1:p.Cys1208=
XM_006710597.2:c.3570C>T	XP_006710660.1:p.Cys1190=
XM_011541317.1:c.3624C>T	XP_011539619.1:p.Cys1208=
XM_011541318.1:c.3624C>T	XP_011539620.1:p.Cys1208=
XM_011541319.1:c.3624C>T	XP_011539621.1:p.Cys1208=
XM_011541320.1:c.3624C>T	XP_011539622.1:p.Cys1208=
XM_011541321.1:c.3624C>T	XP_011539623.1:p.Cys1208=
XM_011541322.1:c.3624C>T	XP_011539624.1:p.Cys1208=
XM_011541318.2:c.3624C>T	XP_011539620.1:p.Cys1208=
XM_017001120.1:c.3765C>T	XP_016856609.1:p.Cys1255=
XM_017001121.1:c.3714C>T	XP_016856610.1:p.Cys1238=
XM_017001122.1:c.3711C>T	XP_016856611.1:p.Cys1237=
NM_005529.7:c.3570C>T MANE Select	NP_005520.4:p.Cys1190=
NM_001291860.2:c.3573C>T	NP_001278789.1:p.Cys1191=