Canonical Allele Identifier: CA671265

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 290055
• ClinVar RCV Id: RCV000285449 ; RCV000340372 ; RCV000711940 ; RCV000765076
• dbSNP Id: rs146309392
• ExAC: 1:22176915 C / T
• gnomAD v2: 1-22176915-C-T
• gnomAD v3: 1-21850422-C-T
• gnomAD v4: 1-21850422-C-T
• MyVariant Identifiers: chr1:g.22176915C>T (hg19) ; chr1:g.21850422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21850422C>T , CM000663.2:g.21850422C>T	GRCh38
NC_000001.10:g.22176915C>T , CM000663.1:g.22176915C>T	GRCh37
NC_000001.9:g.22049502C>T	NCBI36
NG_016740.1:g.91836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.7235G>A MANE Select	ENSP00000363827.3:p.Ser2412Asn
ENST00000374695.7:c.7235G>A	ENSP00000363827.3:p.Ser2412Asn
NM_001291860.1:c.7238G>A	NP_001278789.1:p.Ser2413Asn
NM_005529.6:c.7235G>A	NP_005520.4:p.Ser2412Asn
XM_006710594.2:c.7781G>A	XP_006710657.1:p.Ser2594Asn
XM_006710595.2:c.7733G>A	XP_006710658.1:p.Ser2578Asn
XM_006710596.2:c.7712G>A	XP_006710659.1:p.Ser2571Asn
XM_006710597.2:c.7235G>A	XP_006710660.1:p.Ser2412Asn
XM_011541317.1:c.7784G>A	XP_011539619.1:p.Ser2595Asn
XM_011541318.1:c.7784G>A	XP_011539620.1:p.Ser2595Asn
XM_011541319.1:c.7784G>A	XP_011539621.1:p.Ser2595Asn
XM_011541320.1:c.7505G>A	XP_011539622.1:p.Ser2502Asn
XM_011541321.1:c.7289G>A	XP_011539623.1:p.Ser2430Asn
XM_011541318.2:c.7784G>A	XP_011539620.1:p.Ser2595Asn
XM_017001120.1:c.7430G>A	XP_016856609.1:p.Ser2477Asn
XM_017001121.1:c.7379G>A	XP_016856610.1:p.Ser2460Asn
XM_017001122.1:c.7376G>A	XP_016856611.1:p.Ser2459Asn
NM_005529.7:c.7235G>A MANE Select	NP_005520.4:p.Ser2412Asn
NM_001291860.2:c.7238G>A	NP_001278789.1:p.Ser2413Asn