Canonical Allele Identifier: CA170612

Gene: SCARF2

Linked Data

• ClinVar Variation Id: 144051
• ClinVar RCV Id: RCV000133556
• dbSNP Id: rs587777658
• MyVariant Identifiers: chr22:g.20779735del (hg19) ; chr22:g.20425445del (hg38)
• PubMed: PMID:23808541

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425445del , CM000684.2:g.20425445del	GRCh38
NC_000022.10:g.20779735del , CM000684.1:g.20779735del	GRCh37
NC_000022.9:g.19109735del	NCBI36
NG_031868.2:g.17415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2531del MANE Select	ENSP00000477564.2:p.Gln844ArgfsTer?
ENST00000615031.4:c.2543del	ENSP00000479389.1:p.Gln848ArgfsTer?
ENST00000622235.4:c.2531del	ENSP00000477564.1:p.Gln844ArgfsTer?
ENST00000623402.1:c.2546del	ENSP00000485276.1:p.Gln849ArgfsTer?
NM_153334.6:c.2546del	NP_699165.3:p.Gln849ArgfsTer?
NM_182895.4:c.2531del	NP_878315.2:p.Gln844ArgfsTer?
NM_153334.7:c.2546del	NP_699165.3:p.Gln849ArgfsTer?
NM_182895.5:c.2531del MANE Select	NP_878315.2:p.Gln844ArgfsTer?