Canonical Allele Identifier: CA10150681
Gene: SUSD2 HGNC NCBI
COSMIC:
COSM6310309 (not active)
MyVariant.info:
GRCh38 chr22:g.24186073A>G
GRCh37 chr22:g.24582041A>G
Revel Score:
ENST00000358321 (MANE Select) 0.165
gnomAD v2:
22:24582041 A / G
gnomAD v3:
22:24186073 A / G
gnomAD v4:
chr22-24186073-A-G
Joint Max Group AF 0.16472481 (AFR)
Genomes Max Group AF 0.16284603 (AFR)
Exomes Max Group AF 0.16480515 (AFR)
ClinVar RCV:
RCV001653407
ClinVar Variation:
1255298
dbSNP:
8141797
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24186073A>G , CM000684.2:g.24186073A>G GRCh38
NC_000022.10:g.24582041A>G , CM000684.1:g.24582041A>G GRCh37
NC_000022.9:g.22912041A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358321.4:c.1397A>G MANE Select ENSP00000351075.3:p.Asn466Ser
ENST00000358321.3:c.1397A>G ENSP00000351075.3:p.Asn466Ser
ENST00000463101.1:n.2290A>G
NM_019601.3:c.1397A>G NP_062547.1:p.Asn466Ser
NM_019601.4:c.1397A>G MANE Select NP_062547.1:p.Asn466Ser
Search 100 bp 5'
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