Canonical Allele Identifier: CA670164

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295737
• ClinVar RCV Id: RCV000321357 ; RCV000380661 ; RCV002059438
• dbSNP Id: rs749712460
• ExAC: 1:22163282 C / T
• gnomAD v2: 1-22163282-C-T
• gnomAD v3: 1-21836789-C-T
• gnomAD v4: 1-21836789-C-T
• MyVariant Identifiers: chr1:g.22163282C>T (hg19) ; chr1:g.21836789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21836789C>T , CM000663.2:g.21836789C>T	GRCh38
NC_000001.10:g.22163282C>T , CM000663.1:g.22163282C>T	GRCh37
NC_000001.9:g.22035869C>T	NCBI36
NG_016740.1:g.105469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10355+13G>A MANE Select	ENSP00000363827.3:n.10355+13G>A
ENST00000374676.4:c.183-1152G>A
ENST00000374695.7:c.10355+13G>A	ENSP00000363827.3:n.10355+13G>A
ENST00000471322.2:n.116+13G>A
NM_001291860.1:c.10358+13G>A	NP_001278789.1:n.10358+13G>A
NM_005529.6:c.10355+13G>A	NP_005520.4:n.10355+13G>A
XM_006710594.2:c.10901+13G>A	XP_006710657.1:n.10901+13G>A
XM_006710595.2:c.10853+13G>A	XP_006710658.1:n.10853+13G>A
XM_006710596.2:c.10832+13G>A	XP_006710659.1:n.10832+13G>A
XM_006710597.2:c.10355+13G>A	XP_006710660.1:n.10355+13G>A
XM_011541317.1:c.10904+13G>A	XP_011539619.1:n.10904+13G>A
XM_011541318.1:c.10904+13G>A	XP_011539620.1:n.10904+13G>A
XM_011541319.1:c.10904+13G>A	XP_011539621.1:n.10904+13G>A
XM_011541320.1:c.10625+13G>A	XP_011539622.1:n.10625+13G>A
XM_011541321.1:c.10409+13G>A	XP_011539623.1:n.10409+13G>A
XM_011541318.2:c.10904+13G>A	XP_011539620.1:n.10904+13G>A
XM_017001120.1:c.10550+13G>A	XP_016856609.1:n.10550+13G>A
XM_017001121.1:c.10499+13G>A	XP_016856610.1:n.10499+13G>A
XM_017001122.1:c.10496+13G>A	XP_016856611.1:n.10496+13G>A
NM_005529.7:c.10355+13G>A MANE Select	NP_005520.4:n.10355+13G>A
NM_001291860.2:c.10358+13G>A	NP_001278789.1:n.10358+13G>A