Canonical Allele Identifier: CA671143

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295789
• ClinVar RCV Id: RCV000309917 ; RCV000348433 ; RCV000958428 ; RCV002278359
• dbSNP Id: rs62642518
• ExAC: 1:22175439 G / A
• gnomAD v2: 1-22175439-G-A
• gnomAD v3: 1-21848946-G-A
• gnomAD v4: 1-21848946-G-A
• MyVariant Identifiers: chr1:g.22175439G>A (hg19) ; chr1:g.21848946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21848946G>A , CM000663.2:g.21848946G>A	GRCh38
NC_000001.10:g.22175439G>A , CM000663.1:g.22175439G>A	GRCh37
NC_000001.9:g.22048026G>A	NCBI36
NG_016740.1:g.93312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.7532C>T MANE Select	ENSP00000363827.3:p.Thr2511Ile
ENST00000374695.7:c.7532C>T	ENSP00000363827.3:p.Thr2511Ile
NM_001291860.1:c.7535C>T	NP_001278789.1:p.Thr2512Ile
NM_005529.6:c.7532C>T	NP_005520.4:p.Thr2511Ile
XM_006710594.2:c.8078C>T	XP_006710657.1:p.Thr2693Ile
XM_006710595.2:c.8030C>T	XP_006710658.1:p.Thr2677Ile
XM_006710596.2:c.8009C>T	XP_006710659.1:p.Thr2670Ile
XM_006710597.2:c.7532C>T	XP_006710660.1:p.Thr2511Ile
XM_011541317.1:c.8081C>T	XP_011539619.1:p.Thr2694Ile
XM_011541318.1:c.8081C>T	XP_011539620.1:p.Thr2694Ile
XM_011541319.1:c.8081C>T	XP_011539621.1:p.Thr2694Ile
XM_011541320.1:c.7802C>T	XP_011539622.1:p.Thr2601Ile
XM_011541321.1:c.7586C>T	XP_011539623.1:p.Thr2529Ile
XM_011541318.2:c.8081C>T	XP_011539620.1:p.Thr2694Ile
XM_017001120.1:c.7727C>T	XP_016856609.1:p.Thr2576Ile
XM_017001121.1:c.7676C>T	XP_016856610.1:p.Thr2559Ile
XM_017001122.1:c.7673C>T	XP_016856611.1:p.Thr2558Ile
NM_005529.7:c.7532C>T MANE Select	NP_005520.4:p.Thr2511Ile
NM_001291860.2:c.7535C>T	NP_001278789.1:p.Thr2512Ile