Canonical Allele Identifier: CA10112157
Gene: SCARF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1337651
ClinVar RCV Id: RCV001820665 RCV003264107
dbSNP Id: rs749349489
ExAC: 22:20779778 C / T
gnomAD v2: 22-20779778-C-T
gnomAD v3: 22-20425488-C-T
gnomAD v4: 22-20425488-C-T
MyVariant Identifiers: chr22:g.20779778C>T (hg19) chr22:g.20425488C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425488C>T , CM000684.2:g.20425488C>T GRCh38
NC_000022.10:g.20779778C>T , CM000684.1:g.20779778C>T GRCh37
NC_000022.9:g.19109778C>T NCBI36
NG_031868.2:g.17372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2488G>A MANE Select ENSP00000477564.2:p.Asp830Asn
ENST00000615031.4:c.2500G>A ENSP00000479389.1:p.Asp834Asn
ENST00000622235.4:c.2488G>A ENSP00000477564.1:p.Asp830Asn
ENST00000623402.1:c.2503G>A ENSP00000485276.1:p.Asp835Asn
NM_153334.6:c.2503G>A NP_699165.3:p.Asp835Asn
NM_182895.4:c.2488G>A NP_878315.2:p.Asp830Asn
NM_153334.7:c.2503G>A NP_699165.3:p.Asp835Asn
NM_182895.5:c.2488G>A MANE Select NP_878315.2:p.Asp830Asn
Search 100 bp 5'
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