Canonical Allele Identifier: CA410738631

Gene: SCARF2

Linked Data

• dbSNP Id: rs1601293415
• gnomAD v3: 22-20425683-C-G
• gnomAD v4: 22-20425683-C-G
• MyVariant Identifiers: chr22:g.20425683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425683C>G , CM000684.2:g.20425683C>G	GRCh38
NC_000022.10:g.20779973C>G , CM000684.1:g.20779973C>G	GRCh37
NC_000022.9:g.19109973C>G	NCBI36
NG_031868.2:g.17177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2293G>C MANE Select	ENSP00000477564.2:p.Glu765Gln
ENST00000615031.4:c.2305G>C	ENSP00000479389.1:p.Glu769Gln
ENST00000622235.4:c.2293G>C	ENSP00000477564.1:p.Glu765Gln
ENST00000623402.1:c.2308G>C	ENSP00000485276.1:p.Glu770Gln
NM_153334.6:c.2308G>C	NP_699165.3:p.Glu770Gln
NM_182895.4:c.2293G>C	NP_878315.2:p.Glu765Gln
NM_153334.7:c.2308G>C	NP_699165.3:p.Glu770Gln
NM_182895.5:c.2293G>C MANE Select	NP_878315.2:p.Glu765Gln