Canonical Allele Identifier: CA410738867

Gene: SCARF2

Linked Data

• dbSNP Id: rs1314720159
• gnomAD v3: 22-20425724-A-C
• gnomAD v4: 22-20425724-A-C
• MyVariant Identifiers: chr22:g.20780013A>C (hg19) ; chr22:g.20425724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425724A>C , CM000684.2:g.20425724A>C	GRCh38
NC_000022.10:g.20780013A>C , CM000684.1:g.20780013A>C	GRCh37
NC_000022.9:g.19110013A>C	NCBI36
NG_031868.2:g.17136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2252T>G MANE Select	ENSP00000477564.2:p.Leu751Trp
ENST00000615031.4:c.2265T>G	ENSP00000479389.1:p.Leu755=
ENST00000622235.4:c.2252T>G	ENSP00000477564.1:p.Leu751Trp
ENST00000623402.1:c.2267T>G	ENSP00000485276.1:p.Leu756Trp
NM_153334.6:c.2267T>G	NP_699165.3:p.Leu756Trp
NM_182895.4:c.2252T>G	NP_878315.2:p.Leu751Trp
NM_153334.7:c.2267T>G	NP_699165.3:p.Leu756Trp
NM_182895.5:c.2252T>G MANE Select	NP_878315.2:p.Leu751Trp