Canonical Allele Identifier: CA4103557
Gene: THBS2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.169241922A>C
GRCh37 chr6:g.169642017A>C
Revel Score:
ENST00000366787 0.492
gnomAD v2:
6:169642017 A / C
gnomAD v3:
6:169241922 A / C
gnomAD v4:
chr6-169241922-A-C
Joint Max Group AF 0.00010393 (EAS)
Genomes Max Group AF 0.00006823 (EAS)
Exomes Max Group AF 0.00008199 (EAS)
ClinVar Allele:
2220082
ClinVar RCV:
RCV004093955
ClinVar Variation:
2231932
dbSNP:
748691484
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169241922A>C , CM000668.2:g.169241922A>C GRCh38
NC_000006.11:g.169642017A>C , CM000668.1:g.169642017A>C GRCh37
NC_000006.10:g.169383942A>C NCBI36
NG_022911.1:g.17121T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.731T>G MANE Select ENSP00000482784.1:p.Leu244Arg
ENST00000649844.1:c.731T>G ENSP00000497834.1:p.Leu244Arg
ENST00000676498.1:c.731T>G ENSP00000504820.1:p.Leu244Arg
ENST00000676628.1:c.731T>G ENSP00000504416.1:p.Leu244Arg
ENST00000676760.1:c.731T>G ENSP00000503020.1:p.Leu244Arg
ENST00000676869.1:c.731T>G ENSP00000504488.1:p.Leu244Arg
ENST00000677398.1:n.958T>G
ENST00000677429.1:c.*97T>G ENSP00000503286.1:n.*97T>G
ENST00000678378.1:n.116T>G
ENST00000366787.7:c.731T>G ENSP00000355751.3:p.Leu244Arg
ENST00000617924.4:c.731T>G ENSP00000482784.1:p.Leu244Arg
NM_003247.3:c.731T>G NP_003238.2:p.Leu244Arg
NM_003247.4:c.731T>G NP_003238.2:p.Leu244Arg
NM_001381939.1:c.731T>G NP_001368868.1:p.Leu244Arg
NM_001381940.1:c.731T>G NP_001368869.1:p.Leu244Arg
NM_001381941.1:c.731T>G NP_001368870.1:p.Leu244Arg
NM_001381942.1:c.500T>G NP_001368871.1:p.Leu167Arg
NM_003247.5:c.731T>G MANE Select NP_003238.2:p.Leu244Arg
NR_167744.1:n.876T>G
NR_167745.1:n.876T>G
Search 100 bp 5'
Search 100 bp 3'