Canonical Allele Identifier: CA751517168

Gene: SCARF2

Linked Data

• dbSNP Id: rs1406749508
• gnomAD v3: 22-20425751-CGGGCCCTGGGCGGCGAGGGCGCAGCGA-C
• gnomAD v4: 22-20425751-CGGGCCCTGGGCGGCGAGGGCGCAGCGA-C
• MyVariant Identifiers: chr22:g.20780039_20780065del (hg19) ; chr22:g.20425752_20425778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425756_20425782del , CM000684.2:g.20425756_20425782del	GRCh38
NC_000022.10:g.20780043_20780069del , CM000684.1:g.20780043_20780069del	GRCh37
NC_000022.9:g.19110043_19110069del	NCBI36
NG_031868.2:g.17082_17108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2198_2224del MANE Select	ENSP00000477564.2:p.Leu733_Ala741del
ENST00000615031.4:c.2213_2239del	ENSP00000479389.1:p.Leu738_Ala746del
ENST00000622235.4:c.2198_2224del	ENSP00000477564.1:p.Leu733_Ala741del
ENST00000623402.1:c.2213_2239del	ENSP00000485276.1:p.Leu738_Ala746del
NM_153334.6:c.2213_2239del	NP_699165.3:p.Leu738_Ala746del
NM_182895.4:c.2198_2224del	NP_878315.2:p.Leu733_Ala741del
NM_153334.7:c.2213_2239del	NP_699165.3:p.Leu738_Ala746del
NM_182895.5:c.2198_2224del MANE Select	NP_878315.2:p.Leu733_Ala741del