Canonical Allele Identifier: CA673113

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295880
• ClinVar RCV Id: RCV000267821 ; RCV000357849 ; RCV000516428 ; RCV002520442
• dbSNP Id: rs149094407
• ExAC: 1:22206608 G / A
• gnomAD v2: 1-22206608-G-A
• gnomAD v3: 1-21880115-G-A
• gnomAD v4: 1-21880115-G-A
• MyVariant Identifiers: chr1:g.22206608G>A (hg19) ; chr1:g.21880115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21880115G>A , CM000663.2:g.21880115G>A	GRCh38
NC_000001.10:g.22206608G>A , CM000663.1:g.22206608G>A	GRCh37
NC_000001.9:g.22079195G>A	NCBI36
NG_016740.1:g.62143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.2335C>T MANE Select	ENSP00000363827.3:p.His779Tyr
ENST00000374695.7:c.2335C>T	ENSP00000363827.3:p.His779Tyr
NM_001291860.1:c.2338C>T	NP_001278789.1:p.His780Tyr
NM_005529.6:c.2335C>T	NP_005520.4:p.His779Tyr
XM_006710594.2:c.2386C>T	XP_006710657.1:p.His796Tyr
XM_006710595.2:c.2338C>T	XP_006710658.1:p.His780Tyr
XM_006710596.2:c.2389C>T	XP_006710659.1:p.His797Tyr
XM_006710597.2:c.2335C>T	XP_006710660.1:p.His779Tyr
XM_011541317.1:c.2389C>T	XP_011539619.1:p.His797Tyr
XM_011541318.1:c.2389C>T	XP_011539620.1:p.His797Tyr
XM_011541319.1:c.2389C>T	XP_011539621.1:p.His797Tyr
XM_011541320.1:c.2389C>T	XP_011539622.1:p.His797Tyr
XM_011541321.1:c.2389C>T	XP_011539623.1:p.His797Tyr
XM_011541322.1:c.2389C>T	XP_011539624.1:p.His797Tyr
XM_011541318.2:c.2389C>T	XP_011539620.1:p.His797Tyr
XM_017001120.1:c.2530C>T	XP_016856609.1:p.His844Tyr
XM_017001121.1:c.2479C>T	XP_016856610.1:p.His827Tyr
XM_017001122.1:c.2476C>T	XP_016856611.1:p.His826Tyr
NM_005529.7:c.2335C>T MANE Select	NP_005520.4:p.His779Tyr
NM_001291860.2:c.2338C>T	NP_001278789.1:p.His780Tyr