Canonical Allele Identifier: CA410737711

Gene: SCARF2

Linked Data

• gnomAD v4: 22-20425444-C-G
• MyVariant Identifiers: chr22:g.20779734C>G (hg19) ; chr22:g.20425444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425444C>G , CM000684.2:g.20425444C>G	GRCh38
NC_000022.10:g.20779734C>G , CM000684.1:g.20779734C>G	GRCh37
NC_000022.9:g.19109734C>G	NCBI36
NG_031868.2:g.17416G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622235.5:c.2532G>C MANE Select	ENSP00000477564.2:p.Gln844His
ENST00000615031.4:c.2544G>C	ENSP00000479389.1:p.Gln848His
ENST00000622235.4:c.2532G>C	ENSP00000477564.1:p.Gln844His
ENST00000623402.1:c.2547G>C	ENSP00000485276.1:p.Gln849His
NM_153334.6:c.2547G>C	NP_699165.3:p.Gln849His
NM_182895.4:c.2532G>C	NP_878315.2:p.Gln844His
NM_153334.7:c.2547G>C	NP_699165.3:p.Gln849His
NM_182895.5:c.2532G>C MANE Select	NP_878315.2:p.Gln844His