Canonical Allele Identifier: CA10112150
Gene: SCARF2 HGNC NCBI

Linked Data

dbSNP Id: rs760938357
ExAC: 22:20779759 GTCTCAGGCGCGGGCAAGTCGGTCGCCGCCT / G
gnomAD v2: 22-20779759-GTCTCAGGCGCGGGCAAGTCGGTCGCCGCCT-G
gnomAD v4: 22-20425469-GTCTCAGGCGCGGGCAAGTCGGTCGCCGCCT-G
MyVariant Identifiers: chr22:g.20779760_20779789del (hg19) chr22:g.20425470_20425499del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425478_20425507del , CM000684.2:g.20425478_20425507del GRCh38
NC_000022.10:g.20779768_20779797del , CM000684.1:g.20779768_20779797del GRCh37
NC_000022.9:g.19109768_19109797del NCBI36
NG_031868.2:g.17361_17390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2477_2506del MANE Select ENSP00000477564.2:p.Lys826_Glu835del
ENST00000615031.4:c.2489_2518del ENSP00000479389.1:p.Lys830_Glu839del
ENST00000622235.4:c.2477_2506del ENSP00000477564.1:p.Lys826_Glu835del
ENST00000623402.1:c.2492_2521del ENSP00000485276.1:p.Lys831_Glu840del
NM_153334.6:c.2492_2521del NP_699165.3:p.Lys831_Glu840del
NM_182895.4:c.2477_2506del NP_878315.2:p.Lys826_Glu835del
NM_153334.7:c.2492_2521del NP_699165.3:p.Lys831_Glu840del
NM_182895.5:c.2477_2506del MANE Select NP_878315.2:p.Lys826_Glu835del
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