Canonical Allele Identifier: CA2643961624
Gene: HSPG2 HGNC NCBI

Linked Data

gnomAD v4: 1-21841039-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21841039C>T , CM000663.2:g.21841039C>T GRCh38
NC_000001.10:g.22167532C>T , CM000663.1:g.22167532C>T GRCh37
NC_000001.9:g.22040119C>T NCBI36
NG_016740.1:g.101219G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374695.8:c.9513+62G>A MANE Select ENSP00000363827.3:n.9513+62G>A
ENST00000374695.7:c.9513+62G>A ENSP00000363827.3:n.9513+62G>A
NM_001291860.1:c.9516+62G>A NP_001278789.1:n.9516+62G>A
NM_005529.6:c.9513+62G>A NP_005520.4:n.9513+62G>A
XM_006710594.2:c.10059+62G>A XP_006710657.1:n.10059+62G>A
XM_006710595.2:c.10011+62G>A XP_006710658.1:n.10011+62G>A
XM_006710596.2:c.9990+62G>A XP_006710659.1:n.9990+62G>A
XM_006710597.2:c.9513+62G>A XP_006710660.1:n.9513+62G>A
XM_011541317.1:c.10062+62G>A XP_011539619.1:n.10062+62G>A
XM_011541318.1:c.10062+62G>A XP_011539620.1:n.10062+62G>A
XM_011541319.1:c.10062+62G>A XP_011539621.1:n.10062+62G>A
XM_011541320.1:c.9783+62G>A XP_011539622.1:n.9783+62G>A
XM_011541321.1:c.9567+62G>A XP_011539623.1:n.9567+62G>A
XM_011541318.2:c.10062+62G>A XP_011539620.1:n.10062+62G>A
XM_017001120.1:c.9708+62G>A XP_016856609.1:n.9708+62G>A
XM_017001121.1:c.9657+62G>A XP_016856610.1:n.9657+62G>A
XM_017001122.1:c.9654+62G>A XP_016856611.1:n.9654+62G>A
NM_005529.7:c.9513+62G>A MANE Select NP_005520.4:n.9513+62G>A
NM_001291860.2:c.9516+62G>A NP_001278789.1:n.9516+62G>A