Canonical Allele Identifier: CA410738639

Gene: SCARF2

Linked Data

• dbSNP Id: rs1601293437
• gnomAD v4: 22-20425687-C-G
• MyVariant Identifiers: chr22:g.20779976C>G (hg19) ; chr22:g.20425687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425687C>G , CM000684.2:g.20425687C>G	GRCh38
NC_000022.10:g.20779976C>G , CM000684.1:g.20779976C>G	GRCh37
NC_000022.9:g.19109976C>G	NCBI36
NG_031868.2:g.17173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2289G>C MANE Select	ENSP00000477564.2:p.Ala763=
ENST00000615031.4:c.2302G>C	ENSP00000479389.1:p.Ala768Pro
ENST00000622235.4:c.2289G>C	ENSP00000477564.1:p.Ala763=
ENST00000623402.1:c.2304G>C	ENSP00000485276.1:p.Ala768=
NM_153334.6:c.2304G>C	NP_699165.3:p.Ala768=
NM_182895.4:c.2289G>C	NP_878315.2:p.Ala763=
NM_153334.7:c.2304G>C	NP_699165.3:p.Ala768=
NM_182895.5:c.2289G>C MANE Select	NP_878315.2:p.Ala763=